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Variant : CV679149 (NM_015526.3(CLIP3):c.1255G>A (p.Gly419Arg)) Homo sapiens

Symbol: CV679149
Name: NM_015526.3(CLIP3):c.1255G>A (p.Gly419Arg)
Condition: Esophageal atresia [RCV000984729]
Clinical Significance: uncertain significance
Last Evaluated: 05/22/2019
Review Status: no assertion criteria provided
Related Genes: AC002116.2   CLIP3  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: research
HGVS Name(s): NM_001199570.2:c.1255G>A
NM_015526.3:c.1255G>A
NM_001290056.3:c.48+960C>T
NM_001347907.2:c.48+960C>T
NC_000019.10:g.36017920C>T
NC_000019.9:g.36508822C>T
NM_001199570.1:c.1255G>A
NP_001186499.1:p.Gly419Arg
NP_056341.1:p.Gly419Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381936,017,920 - 36,017,920CLINVAR
GRCh371936,508,822 - 36,508,822CLINVAR
Cytogenetic Map1919q13.12CLINVAR
Trait Synonyms: Pyloric stenosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15174181
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-08-04
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.