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Variant : CV165077 (GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3) Homo sapiens

Symbol: CV165077
Name: GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3
Condition: See cases [RCV000143390]
Clinical Significance: pathogenic
Last Evaluated: 03/24/2014
Review Status: classified by 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 gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73280574)_(74728722_?)dup
NC_000007.13:g.(?_72677301)_(74143060_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38773,280,574 - 74,728,722 (+)CLINVAR
GRCh37772,677,301 - 74,143,060CLINVAR
Build 36772,315,237 - 73,780,996CLINVAR
Cytogenetic Map77q11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490988
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
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.