Annotation Detail
Information
- Associated Genes
- ANXA13 EXT1 HAS2 NDUFB9 CCN3 TNFRSF11B ENPP2 SNTB1 SQLE TAF2 COL14A1 MTSS1 WASHC5 TRIB1 COLEC10 RNF139 ZHX1 ZHX2 MTBP MRPL13 ATAD2 TRMT12 NTAQ1 DEPTOR DSCC1 DERL1 TATDN1 C8orf76 FAM83A MED30 TBC1D31 MAL2 FBXO32 ZNF572 TMEM65 FAM91A1 SLC30A8 NSMCE2 KLHL38 SAMD12 HAS2-AS1 FER1L6 ZHX1-C8orf76
- Associated Variants
- GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1
- Associated Disease
- Exostoses, multiple, type 1
- Source Database
- ClinVar
- Description
- GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 AND Exostoses, multiple, type 1
- ClinVar Allele ID
- 2747889
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-01-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003329505
- ClinVar Disease
- Exostoses, multiple, type 1
- Observed Origin Sample
- unknown
Drugs