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Variant : CV55192 (NM_022124.5(CDH23):c.7132G>A (p.Gly2378Arg)) Homo sapiens

Symbol: CV55192
Name: NM_022124.5(CDH23):c.7132G>A (p.Gly2378Arg)
Condition: AllHighlyPenetrant [RCV000039263]|not specified [RCV000039263]
Clinical Significance: uncertain significance
Last Evaluated: 11/04/2011
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.7132G>A
NG_008835.1:g.407242G>A
NC_000010.11:g.71799188G>A
NC_000010.10:g.73558945G>A
NP_071407.4:p.Gly2378Arg
c.7132G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,799,188 - 71,799,188CLINVAR
GRCh371073,558,945 - 73,558,945CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608889
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.