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Variant : CV315929 (NM_022124.5(CDH23):c.2235C>T (p.Ile745=)) Homo sapiens

Symbol: CV315929
Name: NM_022124.5(CDH23):c.2235C>T (p.Ile745=)
Condition: Nonsyndromic Hearing Loss, Recessive [RCV000269340]|Retinitis pigmentosa-deafness syndrome [RCV000324478]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.2235C>T
NG_008835.1:g.302259C>T
NC_000010.11:g.71694205C>T
NC_000010.10:g.73453962C>T
NP_071407.4:p.Ile745=
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,694,205 - 71,694,205CLINVAR
GRCh371073,453,962 - 73,453,962CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11599918
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.