Annotation Detail
Information
- Associated Genes
- ATP2A1 CD19 CLN3 SULT1A2 SULT1A1 TUFM EIF3C ATXN2L SH2B1 NUPR1 LAT APOBR RABEP2 SPNS1 NFATC2IP SGF29 IL27 EIF3CL NPIPB6
- Associated Variants
- GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1
- Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1 AND not specified
- ClinVar Allele ID
- 3223636
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003987151
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs