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Variant : CV55184 (NM_022124.5(CDH23):c.6847G>A (p.Val2283Ile)) Homo sapiens

Symbol: CV55184
Name: NM_022124.5(CDH23):c.6847G>A (p.Val2283Ile)
Condition: AllHighlyPenetrant [RCV000039255]|Nonsyndromic Hearing Loss, Recessive [RCV000358418]|Retinitis pigmentosa-deafness syndrome [RCV000405522]|not provided [RCV000086976]|not specified [RCV000039255]
Clinical Significance: benign|likely benign|not provided
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only|not provided
HGVS Name(s): NM_022124.5:c.6847G>A
NG_008835.1:g.406425G>A
NC_000010.11:g.71798371G>A
NC_000010.10:g.73558128G>A
NM_022124.4:c.6847G>A
NP_071407.4:p.Val2283Ile
c.6847G>A
NM_001171936.1:c.-13921G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,798,371 - 71,798,371CLINVAR
GRCh371073,558,128 - 73,558,128CLINVAR
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: 8608881
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.