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Variant : CV229894 (NM_022124.5(CDH23):c.6866A>G (p.Asn2289Ser)) Homo sapiens

Symbol: CV229894
Name: NM_022124.5(CDH23):c.6866A>G (p.Asn2289Ser)
Condition: Deafness, autosomal recessive 12 [RCV000416514]|not provided [RCV000755232]|not specified [RCV000215740]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 05/30/2017
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.6866A>G
NG_008835.1:g.406444A>G
NC_000010.11:g.71798390A>G
NC_000010.10:g.73558147A>G
NP_071407.4:p.Asn2289Ser
p.(Asn2289Ser)
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,798,390 - 71,798,390CLINVAR
GRCh371073,558,147 - 73,558,147CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: infancy



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11090181
Created: 2016-06-07
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.