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Variant : CV177262 (NM_022124.5(CDH23):c.3022G>A (p.Val1008Met)) Homo sapiens

Symbol: CV177262
Name: NM_022124.5(CDH23):c.3022G>A (p.Val1008Met)
Condition: Deafness, autosomal recessive 12 [RCV000764913]|Nonsyndromic Hearing Loss, Recessive [RCV000283445]|Retinitis pigmentosa-deafness syndrome [RCV000402667]|not provided [RCV000723774]|not specified [RCV000152946]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
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.3022G>A
NG_008835.1:g.315019G>A
NC_000010.11:g.71706965G>A
NC_000010.10:g.73466722G>A
NP_071407.4:p.Val1008Met
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,706,965 - 71,706,965CLINVAR
GRCh371073,466,722 - 73,466,722CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: PITUITARY ADENOMA 5, MULTIPLE TYPES; RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8; Usher syndrome, type 1D; USHER SYNDROME, TYPE ID



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9692759
Created: 2015-02-10
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.