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Variant : CV679150 (NM_015526.3(CLIP3):c.2T>C (p.Met1Thr)) Homo sapiens

Symbol: CV679150
Name: NM_015526.3(CLIP3):c.2T>C (p.Met1Thr)
Condition: Esophageal atresia [RCV000984728]
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:0001582)
Source: CLINVAR
Molecular Consequence: initiatior codon variant
Evidence: research
HGVS Name(s): NM_001290056.3:c.199+12972A>G
NM_001347907.2:c.199+12972A>G
NM_001199570.2:c.2T>C
NM_015526.3:c.2T>C
NC_000019.10:g.36032356A>G
NC_000019.9:g.36523258A>G
NM_001199570.1:c.2T>C
NP_001186499.1:p.Met1Thr
NP_056341.1:p.Met1Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh381936,032,356 - 36,032,356CLINVAR
GRCh371936,523,258 - 36,523,258CLINVAR
Cytogenetic Map1919q13.12CLINVAR
Trait Synonyms: Pyloric stenosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15174180
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-07-28
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.