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Variant : CV679965 (GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1) Homo sapiens

Symbol: CV679965
Name: GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1
Condition: Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000853560]
Clinical Significance: pathogenic
Last Evaluated: 09/11/2019
Review Status: criteria provided, single submitter
Related Genes: AC034199.1   ATP6V0E1   BNIP1   BOD1   C5orf58   CPEB4   CREBRF   DOCK2   DUSP1   EFCAB9   ERGIC1   FBXW11   FGF18   FOXI1   GABRP   INSYN2B   KCNIP1   KCNMB1   LCP2   LOC100288254   MIR103A1   NEURL1B   NKX2-5   NPM1   PANK3   RANBP17   RARS1   RPL26L1   SH3PXD2B   SLIT3   SMIM23   SNORA74B   SPDL1   STC2   STK10   TENM2   TLX3   UBTD2   WWC1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
GRCh375166,421,173 - 173,324,843CLINVAR
Cytogenetic Map55q34-35.2CLINVAR
Trait Synonyms: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect 7; ATRIAL SEPTAL DEFECT 7 WITH ATRIOVENTRICULAR CONDUCTION DEFECTS; ATRIAL SEPTAL DEFECT 7 WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect with atrioventricular conduction defects; Atrial septal defect with atrioventricular conduction defects, somatic




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15014794
Created: 2019-11-12
Species: Homo sapiens
Last Modified: 2020-07-28
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.