Annotation Detail
Information
- Associated Genes
- AQP8 ATP2A1 CD19 CDR2 CLN3 GTF3C1 IL4R NDUFAB1 PLK1 PRKCB RBBP6 SCNN1B SCNN1G SULT1A2 SULT1A1 TUFM UQCRC2 EIF3C HS3ST4 HS3ST2 IGSF6 CACNG3 ERN2 ATXN2L GGA2 NPIPB3 XPO6 KATNIP SH2B1 NUPR1 LAT TNRC6A EEF2K IL21R METTL9 LCMT1 ARHGAP17 POLR3E APOBR UBFD1 USP31 CHP2 PALB2 KDM8 RABEP2 SPNS1 DCTN5 NFATC2IP COG7 SGF29 SLC5A11 EARS2 VWA3A OTOA GSG1L C16orf82 NSMCE1 IL27 PDZD9 ZKSCAN2 SBK1 NPIPB4 EIF3CL NPIPB6 MOSMO NPIPB5 SDR42E2
- Associated Variants
- GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3
- Source Database
- ClinVar
- Description
- GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 AND See cases
- ClinVar Allele ID
- 437044
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-04-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000512478
- Observed Origin Sample
- not provided
Drugs