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Variant : CV157261 (GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1) Homo sapiens

Symbol: CV157261
Name: GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1
Condition: See cases [RCV000136688]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCC4   ABHD13   ARGLU1   BIVM   BIVM-ERCC5   CCDC168   CLDN10   CLDN10-AS1   CLYBL   CLYBL-AS1   CLYBL-AS2   DAOA   DAOA-AS1   DCT   DNAJC3   DNAJC3-DT   DOCK9   DOCK9-AS1   DOCK9-DT   DZIP1   EFNB2   ERCC5   FAM155A   FAM155A-IT1   FARP1   FGF14   FGF14-AS1   FGF14-AS2   FGF14-IT1   GGACT   GPC6   GPC6-AS1   GPC6-AS2   GPR18   GPR180   GPR183   HS6ST3   IPO5   ITGBL1   LIG4   LINC00343   LINC00359   LINC00370   LINC00399   LINC00411   LINC00443   LINC00449   LINC00456   LINC00460   LINC00551   LINC00554   LINC00557   LINC01039   LINC01232   LINC01309   MBNL2   METTL21C   MIR1267   MIR2681   MIR3170   MIR4306   MIR4501   MIR4705   MIR623   MYO16   MYO16-AS1   NALCN   NALCN-AS1   OXGR1   PCCA   PCCA-AS1   PCCA-DT   POGLUT2   RAP2A   RNF113B   SLC10A2   SLC15A1   SNORD13G   SNORD31B   SOX21   SOX21-AS1   STK24   STK24-AS1   TEX30   TGDS   TM9SF2   TMTC4   TNFSF13B   TPP2   TRF-GAA1-5   UBAC2   UBAC2-AS1   UGGT2   ZIC2   ZIC5  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_93345058)_(109458154_?)del
NC_000013.10:g.(?_93997311)_(110110501_?)del
NC_000013.9:g.(?_92795312)_(108908502_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381393,345,058 - 109,458,154CLINVAR
GRCh371393,997,311 - 110,110,501CLINVAR
Build 361392,795,312 - 108,908,502CLINVAR
Cytogenetic Map1313q31.3-33.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484249
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.