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Variant : CV55105 (NM_022124.5(CDH23):c.429+13G>A) Homo sapiens

Symbol: CV55105
Name: NM_022124.5(CDH23):c.429+13G>A
Condition: AllHighlyPenetrant [RCV000039174]|Nonsyndromic Hearing Loss, Recessive [RCV000371266]|Retinitis pigmentosa-deafness syndrome [RCV000313898]|not specified [RCV000039174]
Clinical Significance: benign|likely benign
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CDH23   CDH23-AS1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.429+13G>A
NG_008835.1:g.119279G>A
NC_000010.11:g.71511225G>A
NC_000010.10:g.73270982G>A
c.429+13G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,511,225 - 71,511,225CLINVAR
GRCh371073,270,982 - 73,270,982CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608802
Created: 2014-05-13
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.