Annotation Detail

Information
Associated Genes
SNAP25
Associated Variants
SNAP25 c.*239G>T ( ENST00000254976.7, ENST00000304886.6, ENST00000685131.1, ENST00000687785.1, ENST00000689757.1, ENST00000689858.1, ENST00000690812.1, ENST00000691161.1, ENST00000691353.1, ENST00000691665.1, ENST00000692411.1, ENST00000693325.1, ENST00000706269.1 )
SNAP25 c.*239G>T ( ENST00000254976.7, ENST00000304886.6, ENST00000685131.1, ENST00000687785.1, ENST00000689757.1, ENST00000689858.1, ENST00000690812.1, ENST00000691161.1, ENST00000691353.1, ENST00000691665.1, ENST00000692411.1, ENST00000693325.1, ENST00000706269.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_130811.4(SNAP25):c.*239G>T AND not provided
ClinVar Allele ID
1158735
ClinVar RefSeq Alternation Syntax
NM_001322904.2:c.*239G>T
ClinVar RefSeq Alternation Syntax
NM_130811.4:c.*239G>T
ClinVar RefSeq Alternation Syntax
NM_001322902.2:c.*239G>T
ClinVar RefSeq Alternation Syntax
NM_001322906.2:c.*239G>T
ClinVar RefSeq Alternation Syntax
NM_001322905.2:c.*239G>T
ClinVar RefSeq Alternation Syntax
NM_001322909.2:c.*239G>T
ClinVar RefSeq Alternation Syntax
NM_001322908.2:c.*239G>T
ClinVar RefSeq Alternation Syntax
NM_001322903.2:c.*239G>T
ClinVar RefSeq Alternation Syntax
NM_001322907.2:c.*239G>T
ClinVar RefSeq Alternation Syntax
NM_001322910.2:c.*239G>T
ClinVar RefSeq Alternation Syntax
NM_003081.5:c.*239G>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2021-03-08
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001655770
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs