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Variant : CV55072 (NM_022124.5(CDH23):c.3070G>A (p.Val1024Met)) Homo sapiens

Symbol: CV55072
Name: NM_022124.5(CDH23):c.3070G>A (p.Val1024Met)
Condition: AllHighlyPenetrant [RCV000039140]|not specified [RCV000039140]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 08/11/2014
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.3070G>A
NG_008835.1:g.315067G>A
NC_000010.11:g.71707013G>A
NC_000010.10:g.73466770G>A
NP_071407.4:p.Val1024Met
NM_001171931.1:c.3070G>A
c.3070G>A
NP_001165402.1:p.Val1024Met
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,707,013 - 71,707,013CLINVAR
GRCh371073,466,770 - 73,466,770CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608769
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.