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Variant : CV55182 (NM_022124.5(CDH23):c.67+12C>T) Homo sapiens

Symbol: CV55182
Name: NM_022124.5(CDH23):c.67+12C>T
Condition: AllHighlyPenetrant [RCV000039253]|Nonsyndromic Hearing Loss, Recessive [RCV000276957]|Retinitis pigmentosa-deafness syndrome [RCV000369564]|not provided [RCV000124212]|not specified [RCV000039253]
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  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.67+12C>T
NG_008835.1:g.47964C>T
NC_000010.11:g.71439910C>T
NC_000010.10:g.73199667C>T
c.67+12C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,439,910 - 71,439,910CLINVAR
GRCh371073,199,667 - 73,199,667CLINVAR
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: 8608879
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.