chr1:156873743:G>A Detail (hg38) (NTRK1)

Information

Genome

Assembly Position
hg19 chr1:156,843,535-156,843,535 View the variant detail on this assembly version.
hg38 chr1:156,873,743-156,873,743

HGVS

Type Transcript Protein
RefSeq NM_001012331.1:c.961G>A NP_001012331.1:p.Val321Met
NM_001007792.1:c.799G>A NP_001007793.1:p.Val267Met
NM_002529.3:c.961G>A NP_002520.2:p.Val321Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 191315 OMIM
HGNC 8031 HGNC
Ensembl ENSG00000198400 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1259646 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-04-11 criteria provided, multiple submitters, no conflicts Hereditary insensitivity to pain with anhidrosis germline Detail
Uncertain significance 2023-06-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 familial medullary thyroid carcinoma The results confirmed the successful clinical utility of whole exome sequencing,... BeFree 21655256 Detail
0.522 familial medullary thyroid carcinoma The results confirmed the successful clinical utility of whole exome sequencing,... BeFree 21655256 Detail
0.003 multiple endocrine neoplasia type 2A We unexpectedly discovered that the proband's daughter with MEN 2A-related MTC p... BeFree 21655256 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002529.4(NTRK1):c.961G>A (p.Val321Met) AND Hereditary insensitivity to pain with anhidrosis ClinVar Detail
NM_002529.4(NTRK1):c.961G>A (p.Val321Met) AND not provided ClinVar Detail
The results confirmed the successful clinical utility of whole exome sequencing, and our data sugges... DisGeNET Detail
The results confirmed the successful clinical utility of whole exome sequencing, and our data sugges... DisGeNET Detail
We unexpectedly discovered that the proband's daughter with MEN 2A-related MTC presented a novel p.C... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr1:156,873,743-156,873,743
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8216
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
109150
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.6646816307833254E-5
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