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Variant : CV316031 (NM_022124.5(CDH23):c.*85G>A) Homo sapiens

Symbol: CV316031
Name: NM_022124.5(CDH23):c.*85G>A
Condition: CDH23-Related Disorders [RCV000328932]|Nonsyndromic Hearing Loss, Recessive [RCV000270404]|Retinitis pigmentosa-deafness syndrome [RCV000364985]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.*85G>A
NG_008835.1:g.423417G>A
NC_000010.11:g.71815363G>A
NC_000010.10:g.73575120G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,815,363 - 71,815,363CLINVAR
GRCh371073,575,120 - 73,575,120CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11646382
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.