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Variant : CV73913 (GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1) Homo sapiens

Symbol: CV73913
Name: GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1
Condition: Primary familial hypertrophic cardiomyopathy [RCV000053147]|Absent speech [RCV000053148]|Autism [RCV000053149]|See cases [RCV000053147]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   BAZ1B   BCL7B   BUD23   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2I   GTF2IRD1   LAT2   LIMK1   METTL27   MIR10525   MIR4284   MIR590   MLXIPL   NSUN5   RFC2   STX1A   TBL2   TMEM270   TRIM50   VPS37D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73286412)_(74725240_?)del
NC_000007.13:g.(?_72700414)_(74139573_?)del
NC_000007.12:g.(?_72338350)_(73777509_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38773,286,412 - 74,725,240CLINVAR
GRCh37772,700,414 - 74,139,573CLINVAR
Build 36772,338,350 - 73,777,509CLINVAR
Cytogenetic Map77q11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620091
Created: 2014-05-13
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.