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Variant : CV55089 (NM_022124.5(CDH23):c.3580-12C>T) Homo sapiens

Symbol: CV55089
Name: NM_022124.5(CDH23):c.3580-12C>T
Condition: AllHighlyPenetrant [RCV000039157]|Nonsyndromic Hearing Loss, Recessive [RCV000310732]|Retinitis pigmentosa-deafness syndrome [RCV000362989]|not specified [RCV000039157]
Clinical Significance: benign|likely benign
Last Evaluated: 03/16/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: C10orf105   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.3580-12C>T
NG_008835.1:g.338511C>T
NC_000010.11:g.71730457C>T
NC_000010.10:g.73490214C>T
c.3580-12C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,730,457 - 71,730,457CLINVAR
GRCh371073,490,214 - 73,490,214CLINVAR
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: 8608786
Created: 2014-05-13
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.