---
-
allele_string: A/G
assembly_name: GRCh38
colocated_variants:
-
allele_string: HGMD_MUTATION
end: 31259068
id: CM111457
phenotype_or_disease: 1
seq_region_name: 17
somatic: 1
start: 31259068
strand: 1
-
allele_string: HGMD_MUTATION
end: 31259068
id: CM1211612
phenotype_or_disease: 1
seq_region_name: 17
somatic: 1
start: 31259068
strand: 1
-
allele_string: COSMIC_MUTATION
end: 31259068
id: COSV106061720
phenotype_or_disease: 1
seq_region_name: 17
somatic: 1
start: 31259068
strand: 1
var_synonyms:
COSMIC:
- COSM10073601
-
allele_string: A/C/G
clin_sig:
- pathogenic
clin_sig_allele: C:pathogenic;G:pathogenic
end: 31259068
id: rs878853893
phenotype_or_disease: 1
pubmed:
- 21354044
- 22807134
- 23913538
- 21520333
- 9219684
- 29952103
- 27322474
- 24789688
seq_region_name: 17
start: 31259068
strand: 1
var_synonyms:
ClinVar:
- RCV001557248
- RCV002318966
- RCV000229110
- VCV000237563
- RCV001766524
- RCV000699721
- VCV000577061
end: 31259068
id: NF1:p.K1457E
input: NF1:p.K1457E
most_severe_consequence: missense_variant
seq_region_name: 17
start: 31259068
strand: 1
transcript_consequences:
-
amino_acids: K/E
biotype: protein_coding
cdna_end: 4689
cdna_start: 4689
cds_end: 4306
cds_start: 4306
codons: Aaa/Gaa
consequence_terms:
- missense_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.955'
protein_end: 1436
protein_start: 1436
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000356175
variant_allele: G
-
amino_acids: K/E
biotype: protein_coding
cdna_end: 4702
cdna_start: 4702
cds_end: 4369
cds_start: 4369
codons: Aaa/Gaa
consequence_terms:
- missense_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.997'
protein_end: 1457
protein_start: 1457
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000358273
variant_allele: G
-
amino_acids: K/E
biotype: protein_coding
cdna_end: 3304
cdna_start: 3304
cds_end: 3304
cds_start: 3304
codons: Aaa/Gaa
consequence_terms:
- missense_variant
flags:
- cds_start_NF
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.971'
protein_end: 1102
protein_start: 1102
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000456735
variant_allele: G
-
biotype: nonsense_mediated_decay
cdna_end: 885
cdna_start: 885
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
flags:
- cds_start_NF
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODIFIER
strand: 1
transcript_id: ENST00000466819
variant_allele: G
-
biotype: nonsense_mediated_decay
cdna_end: 822
cdna_start: 822
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
flags:
- cds_start_NF
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODIFIER
strand: 1
transcript_id: ENST00000479614
variant_allele: G
-
biotype: retained_intron
cdna_end: 2842
cdna_start: 2842
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODIFIER
strand: 1
transcript_id: ENST00000493220
variant_allele: G
-
biotype: nonsense_mediated_decay
consequence_terms:
- downstream_gene_variant
distance: 4776
flags:
- cds_start_NF
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODIFIER
strand: 1
transcript_id: ENST00000495910
variant_allele: G
-
amino_acids: K/E
biotype: nonsense_mediated_decay
cdna_end: 4408
cdna_start: 4408
cds_end: 4408
cds_start: 4408
codons: Aaa/Gaa
consequence_terms:
- missense_variant
- NMD_transcript_variant
flags:
- cds_start_NF
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.998'
protein_end: 1470
protein_start: 1470
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000579081
variant_allele: G
-
amino_acids: K/E
biotype: nonsense_mediated_decay
cdna_end: 157
cdna_start: 157
cds_end: 157
cds_start: 157
codons: Aaa/Gaa
consequence_terms:
- missense_variant
- NMD_transcript_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: '0.982'
protein_end: 53
protein_start: 53
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000581113
variant_allele: G
-
biotype: retained_intron
cdna_end: 1014
cdna_start: 1014
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODIFIER
strand: 1
transcript_id: ENST00000687863
variant_allele: G
-
amino_acids: K/E
biotype: protein_coding
cdna_end: 4732
cdna_start: 4732
cds_end: 4399
cds_start: 4399
codons: Aaa/Gaa
consequence_terms:
- missense_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODERATE
polyphen_prediction: possibly_damaging
polyphen_score: '0.723'
protein_end: 1467
protein_start: 1467
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000691014
variant_allele: G
-
biotype: retained_intron
cdna_end: 341
cdna_start: 341
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODIFIER
strand: 1
transcript_id: ENST00000691649
variant_allele: G
-
amino_acids: K/E
biotype: protein_coding
cdna_end: 4734
cdna_start: 4734
cds_end: 4351
cds_start: 4351
codons: Aaa/Gaa
consequence_terms:
- missense_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODERATE
polyphen_prediction: probably_damaging
polyphen_score: 1
protein_end: 1451
protein_start: 1451
sift_prediction: deleterious_low_confidence
sift_score: 0
strand: 1
transcript_id: ENST00000696138
variant_allele: G
-
biotype: protein_coding_CDS_not_defined
cdna_end: 475
cdna_start: 475
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODIFIER
strand: 1
transcript_id: ENST00000696140
variant_allele: G
-
biotype: nonsense_mediated_decay
cdna_end: 360
cdna_start: 360
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
flags:
- cds_start_NF
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: HGNC:7765
impact: MODIFIER
strand: 1
transcript_id: ENST00000696141
variant_allele: G