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Variant : CV322709 (NM_022124.5(CDH23):c.6421A>G (p.Arg2141Gly)) Homo sapiens

Symbol: CV322709
Name: NM_022124.5(CDH23):c.6421A>G (p.Arg2141Gly)
Condition: CDH23-Related Disorders [RCV000260679]|Nonsyndromic Hearing Loss, Recessive [RCV000315929]|Retinitis pigmentosa-deafness syndrome [RCV000375252]|not specified [RCV000414297]
Clinical Significance: uncertain significance
Last Evaluated: 12/02/2018
Review Status: 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.6421A>G
NG_008835.1:g.401403A>G
NC_000010.11:g.71793349A>G
NC_000010.10:g.73553106A>G
NP_071407.4:p.Arg2141Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,349 - 71,793,349CLINVAR
GRCh371073,553,106 - 73,553,106CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11598858
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-07-16
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.