Annotation Detail

Information
Associated Genes
NTRK1
Associated Variants
NTRK1 p.Val321Met (p.V321M) ( ENST00000674537.2, ENST00000524377.7, ENST00000368196.7, ENST00000358660.3, ENST00000392302.7 )
NTRK1 p.Val321Met (p.V321M) ( ENST00000358660.3, ENST00000368196.7, ENST00000392302.7, ENST00000524377.7, ENST00000674537.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_002529.4(NTRK1):c.961G>A (p.Val321Met) AND not provided
ClinVar Allele ID
1914008
ClinVar RefSeq Alternation Syntax
NM_002529.4:c.961G>A
ClinVar RefSeq Alternation Syntax
NM_001007792.1:c.871G>A
ClinVar RefSeq Alternation Syntax
NM_001012331.2:c.961G>A
ClinVar RefSeq Alternation Syntax
NM_001007204.1:c.961G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-06-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003222459
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs