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Variant : CV679119 (NM_032138.7(KBTBD7):c.431T>A (p.Leu144Gln)) Homo sapiens

Symbol: CV679119
Name: NM_032138.7(KBTBD7):c.431T>A (p.Leu144Gln)
Condition: Esophageal atresia [RCV000984662]
Clinical Significance: uncertain significance
Last Evaluated: 05/22/2019
Review Status: no assertion criteria provided
Related Genes: KBTBD7  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NM_032138.7:c.431T>A
NG_053142.1:g.5758T>A
NC_000013.11:g.41193827A>T
NC_000013.10:g.41767963A>T
NM_032138.5:c.431T>A
NP_115514.2:p.Leu144Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381341,193,827 - 41,193,827CLINVAR
GRCh371341,767,963 - 41,767,963CLINVAR
Cytogenetic Map1313q14.11CLINVAR
Trait Synonyms: Pyloric stenosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15174107
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-24
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.