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Variant : CV679101 (NM_001197104.2(KMT2A):c.4816G>C (p.Glu1606Gln)) Homo sapiens

Symbol: CV679101
Name: NM_001197104.2(KMT2A):c.4816G>C (p.Glu1606Gln)
Condition: Esophageal atresia [RCV000984747]
Clinical Significance: uncertain significance
Last Evaluated: 05/22/2019
Review Status: no assertion criteria provided
Related Genes: KMT2A  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: research
HGVS Name(s): NM_005933.4:c.4810+6G>C
NG_027813.1:g.59826G>C
NC_000011.10:g.118491315G>C
NC_000011.9:g.118362030G>C
NM_001197104.1:c.4816G>C
NP_001184033.1:p.Glu1606Gln
LRG_613p1:p.Glu1606Gln
LRG_613t1:c.4816G>C
LRG_613:g.59826G>C
NM_001197104.2:c.4816G>C
NP_001184033.1:p.Glu1606Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh3811118,491,315 - 118,491,315CLINVAR
GRCh3711118,362,030 - 118,362,030CLINVAR
Cytogenetic Map1111q23.3CLINVAR
Trait Synonyms: Pyloric stenosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15174200
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-09-22
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.