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Variant : CV162993 (GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3) Homo sapiens

Symbol: CV162993
Name: GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3
Condition: See cases [RCV000141703]
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)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73175475)_(74740268_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38773,175,475 - 74,740,268CLINVAR
GRCh37772,589,515 - 74,154,603CLINVAR
Build 36772,227,451 - 73,792,539CLINVAR
Cytogenetic Map77q11.23CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489227
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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