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Variant : CV177131 (NM_022124.5(CDH23):c.3301A>G (p.Ile1101Val)) Homo sapiens

Symbol: CV177131
Name: NM_022124.5(CDH23):c.3301A>G (p.Ile1101Val)
Condition: Nonsyndromic Hearing Loss, Recessive [RCV000338523]|Retinitis pigmentosa-deafness syndrome [RCV000281132]|not specified [RCV000152947]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.3301A>G
NG_008835.1:g.320799A>G
NC_000010.11:g.71712745A>G
NC_000010.10:g.73472502A>G
NP_071407.4:p.Ile1101Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,712,745 - 71,712,745CLINVAR
GRCh371073,472,502 - 73,472,502CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9692760
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.