Annotation Detail
Information
- Associated Genes
- ATP4B KLF5 CLN5 COL4A1 COL4A2 DACH1 DCT GPR183 EDNRB EFNB2 ERCC5 F7 F10 FGF14 GPC5 GAS6 GPR18 ING1 IPO5 LAMP1 LIG4 LMO7 PCCA PCDH8 PCDH9 POU4F1 DNAJC3 RAP2A ATXN8OS SLC10A2 SLC15A1 SOX1 TFDP1 TPP2 UCHL3 ZIC2 STK24 CUL4A IRS2 SCEL PROZ ARHGEF7 CDC16 CLDN10 ITGBL1 TM9SF2 TBC1D4 GPC6 MBNL2 FARP1 SPRY2 ABCC4 TUBGCP3 PIBF1 OLFM4 TNFSF13B SUGT1 CNMD SOX21 KLF12 RASA3 DZIP1 DIS3 MYO16 MYCBP2 ATP11A MCF2L DOCK9 TGDS SLITRK5 FBXL3 OXGR1 PCDH17 NDFIP2 BIVM TMCO3 ARGLU1 DCUN1D2 ANKRD10 RAB20 NAXD UGGT2 PCID2 KLHL1 RBM26 PCDH20 UPF3A POGLUT2 CARS2 OBI1 GRTP1 BORA TDRD3 DIAPH3 SLITRK6 TMTC4 ABHD13 ZIC5 GGACT TEX30 ADPRHL1 SLITRK1 KCTD12 TEX29 SLAIN1 PRR20A SPACA7 RNF113B GPR180 COMMD6 CLYBL METTL21C NALCN HS6ST3 DAOA DAOA-AS1 LINC00567 CHAMP1 UBAC2 TMEM255B ATP11AUN MIR17 MIR18A MIR19A MIR19B1 MIR20A MIR92A1 MIR17HG MZT1 MIR4500HG CCDC168 NALF1 PRR20B PRR20C PRR20D PRR20E LMO7DN ACOD1 LOC100288208 ANKRD10-IT1 LINC00402 BIVM-ERCC5 LINC00558 SWINGN
- Associated Variants
- GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1
- Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 AND not provided
- ClinVar Allele ID
- 803799
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-09-09
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001006567
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs