Annotation Detail

Information
Associated Genes
TSPAN12
Associated Variants
TSPAN12 p.Leu101His (p.L101H) ( ENST00000222747.8, ENST00000415871.5 )
TSPAN12 p.Leu101His (p.L101H) ( ENST00000222747.8, ENST00000415871.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_012338.4(TSPAN12):c.302T>A (p.Leu101His) AND not provided
ClinVar Allele ID
15363
ClinVar RefSeq Alternation Syntax
NM_012338.4:c.302T>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2022-03-10
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001209136
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs