Annotation Detail
Information
- Associated Genes
- ABCD1 ARHGAP4 ATP2B3 ATP6AP1 AVPR2 BGN CLIC2 CTAG1B TEX28 DKC1 DNASE1L1 DUSP9 EMD F8 FLNA G6PD OPN1MW GDI1 HCFC1 IDH3G IRAK1 L1CAM MAGEA1 MECP2 MPP1 MTCP1 PLXNB3 OPN1LW RENBP RPL10 SLC6A8 SSR4 TAFAZZIN VBP1 NAA10 F8A1 UBL4A TMEM187 LAGE3 SLC10A3 TKTL1 IKBKG FAM50A BCAP31 ZNF275 TREX2 SRPK3 CTAG2 TMLHE PLXNA3 HAUS7 PDZD4 FAM3A FUNDC2 BRCC3 H2AB3 CCNQ RAB39B GAB3 PNCK ZFP92 CTAG1A H2AB2 H2AB1 F8A2 F8A3 PNMA6E OPN1MW2 SMIM9 CMC4
- Associated Variants
- GRCh37/hg19 Xq28(chrX:152372767-155233731)
- Associated Disease
- syndromic X-linked intellectual disability Lubs type
- Source Database
- ClinVar
- Description
- GRCh37/hg19 Xq28(chrX:152372767-155233731) AND Syndromic X-linked intellectual disability Lubs type
- ClinVar Allele ID
- 1695927
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002280620
- ClinVar Disease
- Syndromic X-linked intellectual disability Lubs type
- Observed Origin Sample
- unknown
Drugs