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Variant : CV157380 (GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1) Homo sapiens

Symbol: CV157380
Name: GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1
Condition: See cases [RCV000136793]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   AC211433.1   BAZ1B   BCL7B   BUD23   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2I   GTF2IRD1   LAT2   LIMK1   METTL27   MIR10525   MIR4284   MIR590   MLXIPL   RFC2   STX1A   TBL2   TMEM270   TRIM50   VPS37D  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73312582)_(74725057_?)del
Human AssemblyChrPosition (strand)Source
GRCh38773,312,582 - 74,725,057CLINVAR
GRCh37772,726,578 - 74,139,390CLINVAR
Build 36772,364,514 - 73,777,326CLINVAR
Cytogenetic Map77q11.23CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9484354
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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