chr1:156879126:C>T Detail (hg38) (NTRK1, LOC129931648)

Information

Genome

Assembly Position
hg19 chr1:156,848,918-156,848,918 View the variant detail on this assembly version.
hg38 chr1:156,879,126-156,879,126

HGVS

Type Transcript Protein
RefSeq NM_001012331.1:c.1792C>T NP_001012331.1:p.His598Tyr
NM_001007792.1:c.1630C>T NP_001007793.1:p.His544Tyr
NM_002529.3:c.1810C>T NP_002520.2:p.His604Tyr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Benign Likely benign
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 tgv302027205 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-08-01 no assertion criteria provided familial medullary thyroid carcinoma germline Detail
Pathogenic 2001-02-01 no assertion criteria provided Hereditary insensitivity to pain with anhidrosis germline Detail
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts Hereditary insensitivity to pain with anhidrosis germline unknown Detail
Benign Likely benign 2021-12-10 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2017-10-05 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.450 HSAN Type IV NA CLINVAR Detail
0.362 familial medullary thyroid carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) AND Familial medullary thyroid carcinoma ClinVar Detail
NM_001012331.1(NTRK1):c.[25C>T;1792C>T;1820G>T] AND Hereditary insensitivity to pain with anhidrosis ClinVar Detail
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) AND Hereditary insensitivity to pain with anhidrosis ClinVar Detail
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) AND not specified ClinVar Detail
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) AND not provided ClinVar Detail
NA DisGeNET Detail
NA 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
-
dbSNP
rs6336 dbSNP
Genome
hg38
Position
chr1:156,879,126-156,879,126
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.62962962962963E-4
Chromosome Counts in All Race (ExAC)
120020
Allele Counts in All Race (ExAC)
5104
Heterozygous Counts in All Race (ExAC)
4832
Homozygous Counts in All Race (ExAC)
136
Allele Frequency in All Race (ExAC)
0.04252624562572904
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