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Variant : CV174996 (NM_022124.5(CDH23):c.7517G>A (p.Arg2506Gln)) Homo sapiens

Symbol: CV174996
Name: NM_022124.5(CDH23):c.7517G>A (p.Arg2506Gln)
Condition: Deafness, autosomal recessive 12 [RCV000477763]|not specified [RCV000150318]
Clinical Significance: uncertain significance
Last Evaluated: 10/27/2015
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|research
HGVS Name(s): NM_022124.5:c.7517G>A
NG_008835.1:g.410986G>A
NC_000010.11:g.71802932G>A
NC_000010.10:g.73562689G>A
NP_071407.4:p.Arg2506Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,802,932 - 71,802,932CLINVAR
GRCh371073,562,689 - 73,562,689CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: infancy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9691490
Created: 2015-02-10
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.