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Variant : CV55143 (NM_022124.5(CDH23):c.5411G>A (p.Arg1804Gln)) Homo sapiens

Symbol: CV55143
Name: NM_022124.5(CDH23):c.5411G>A (p.Arg1804Gln)
Condition: AllHighlyPenetrant [RCV000039213]|Nonsyndromic Hearing Loss, Recessive [RCV000389376]|Retinitis pigmentosa-deafness syndrome [RCV000276508]|not provided [RCV000124200]|not specified [RCV000039213]
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:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.5411G>A
NG_008835.1:g.392383G>A
NC_000010.11:g.71784329G>A
NC_000010.10:g.73544086G>A
NP_071407.4:p.Arg1804Gln
c.5411G>A
NM_001171932.1:c.*166849G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,784,329 - 71,784,329CLINVAR
GRCh371073,544,086 - 73,544,086CLINVAR
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: 8608840
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.