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Variant : CV550306 (Single allele) Homo sapiens

Symbol: CV550306
Name: Single allele
Condition: Intestinal malrotation [RCV000754986]
Clinical Significance: likely pathogenic
Last Evaluated: 06/11/2018
Review Status: 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   MIR590   MLXIPL   NSUN5   RFC2   STX1A   TBL2   TMEM270   TRIM50   VPS37D  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh37772,634,873 - 74,142,327CLINVAR
Cytogenetic Map77q11.23CLINVAR
Trait Synonyms: Gut malrotation



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14393431
Created: 2019-03-12
Species: Homo sapiens
Last Modified: 2020-01-07
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.