chr1:156880036:C>T Detail (hg38) (NTRK1)

Information

Genome

Assembly Position
hg19 chr1:156,849,828-156,849,828 View the variant detail on this assembly version.
hg38 chr1:156,880,036-156,880,036

HGVS

Type Transcript Protein
RefSeq NM_001012331.1:c.2066C>T NP_001012331.1:p.Pro689Leu
NM_001007792.1:c.1904C>T NP_001007793.1:p.Pro635Leu
NM_002529.3:c.2084C>T NP_002520.2:p.Pro695Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 COSM5797423 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-07-16 criteria provided, single submitter Hereditary insensitivity to pain with anhidrosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.450 HSAN Type IV NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu) AND Hereditary insensitivity to pain with anhidrosis ClinVar 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
rs121964868 dbSNP
Genome
hg38
Position
chr1:156,880,036-156,880,036
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser