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Variant : CV19958 (NM_022124.5(CDH23):c.6133G>A (p.Asp2045Asn)) Homo sapiens

Symbol: CV19958
Name: NM_022124.5(CDH23):c.6133G>A (p.Asp2045Asn)
Condition: Deafness, autosomal recessive 12 [RCV000005201]
Clinical Significance: pathogenic
Last Evaluated: 04/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|500b downstream variant
Evidence: literature only
HGVS Name(s): NM_022124.5:c.6133G>A
NG_008835.1:g.399269G>A
NC_000010.11:g.71791215G>A
NC_000010.10:g.73550972G>A
NP_071407.4:p.Asp2045Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,791,215 - 71,791,215CLINVAR
GRCh371073,550,972 - 73,550,972CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Age Of Onset: neonatal/infancy



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8558360
Created: 2014-05-13
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.