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Variant : CV389238 (NM_022124.5(CDH23):c.8204T>C (p.Leu2735Pro)) Homo sapiens

Symbol: CV389238
Name: NM_022124.5(CDH23):c.8204T>C (p.Leu2735Pro)
Condition: Deafness, autosomal recessive 12 [RCV000454163]
Clinical Significance: pathogenic
Last Evaluated: 06/04/2016
Review Status: no assertion criteria provided
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NM_022124.5:c.8204T>C
NG_008835.1:g.415356T>C
NC_000010.11:g.71807302T>C
NC_000010.10:g.73567059T>C
NP_071407.4:p.Leu2735Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,807,302 - 71,807,302CLINVAR
GRCh371073,567,059 - 73,567,059CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Age Of Onset: infancy



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12858863
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-07-09
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.