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Variant : CV19955 (NM_022124.5(CDH23):c.5237G>A (p.Arg1746Gln)) Homo sapiens

Symbol: CV19955
Name: NM_022124.5(CDH23):c.5237G>A (p.Arg1746Gln)
Condition: CDH23-Related Disorders [RCV000405146]|Deafness, autosomal recessive 12 [RCV000039205]|Deafness, autosomal recessive 12 [RCV000150299]|Deafness, autosomal recessive 12 [RCV000763215]|Retinitis pigmentosa-deafness syndrome [RCV000039205]|Usher syndrome, type 1D [RCV000005198]|not provided [RCV000254732]
Clinical Significance: pathogenic
Last Evaluated: 10/31/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|clinical testing
HGVS Name(s): NM_022124.5:c.5237G>A
NG_008835.1:g.387370G>A
NC_000010.11:g.71779316G>A
NC_000010.10:g.73539073G>A
NP_071407.4:p.Arg1746Gln
c.5237G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,779,316 - 71,779,316CLINVAR
GRCh371073,539,073 - 73,539,073CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: PITUITARY ADENOMA 5, MULTIPLE TYPES; Usher syndrome, type 1D; USHER SYNDROME, TYPE ID
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 100 000



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8558357
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-16
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.