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Variant : CV55077 (NM_022124.5(CDH23):c.3262G>A (p.Val1088Met)) Homo sapiens

Symbol: CV55077
Name: NM_022124.5(CDH23):c.3262G>A (p.Val1088Met)
Condition: AllHighlyPenetrant [RCV000039145]|CDH23-Related Disorders [RCV000285498]|Deafness, autosomal recessive 12 [RCV000764914]|Nonsyndromic Hearing Loss, Recessive [RCV000376393]|Retinitis pigmentosa-deafness syndrome [RCV000324074]|not specified [RCV000039145]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.3262G>A
NG_008835.1:g.320760G>A
NC_000010.11:g.71712706G>A
NC_000010.10:g.73472463G>A
NP_071407.4:p.Val1088Met
c.3262G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,712,706 - 71,712,706CLINVAR
GRCh371073,472,463 - 73,472,463CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; PITUITARY ADENOMA 5, MULTIPLE TYPES; RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8; Usher syndrome, type 1D; USHER SYNDROME, TYPE ID



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608774
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.