Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV679108 (NM_013265.4(VPS51):c.673G>A (p.Asp225Asn)) Homo sapiens

Symbol: CV679108
Name: NM_013265.4(VPS51):c.673G>A (p.Asp225Asn)
Condition: Esophageal atresia [RCV000984771]
Clinical Significance: uncertain significance
Last Evaluated: 05/22/2019
Review Status: no assertion criteria provided
Related Genes: VPS51  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NM_013265.4:c.673G>A
NC_000011.10:g.65107970G>A
NC_000011.9:g.64875442G>A
NR_073519.2:n.710G>A
NM_013265.3:c.673G>A
NP_037397.2:p.Asp225Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh381165,107,970 - 65,107,970CLINVAR
GRCh371164,875,442 - 64,875,442CLINVAR
Cytogenetic Map1111q13.1CLINVAR
Trait Synonyms: Pyloric stenosis




Additional Information

 
RGD Object Information
RGD ID: 15174228
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-09-29
Status: ACTIVE



NHLBI Logo

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