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Variant : CV322059 (NM_022124.5(CDH23):c.7362+14G>A) Homo sapiens

Symbol: CV322059
Name: NM_022124.5(CDH23):c.7362+14G>A
Condition: CDH23-Related Disorders [RCV000383881]|Nonsyndromic Hearing Loss, Recessive [RCV000339955]|Retinitis pigmentosa-deafness syndrome [RCV000292073]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.7362+14G>A
NG_008835.1:g.407697G>A
NC_000010.11:g.71799643G>A
NC_000010.10:g.73559400G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,799,643 - 71,799,643CLINVAR
GRCh371073,559,400 - 73,559,400CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11602560
Created: 2017-01-11
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.