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Variant : CV55100 (NM_022124.5(CDH23):c.3999G>A (p.Val1333=)) Homo sapiens

Symbol: CV55100
Name: NM_022124.5(CDH23):c.3999G>A (p.Val1333=)
Condition: AllHighlyPenetrant [RCV000039169]|not specified [RCV000039169]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 02/26/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant|intron|intron variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.3999G>A
NG_008835.1:g.340324G>A
NC_000010.11:g.71732270G>A
NC_000010.10:g.73492027G>A
NP_071407.4:p.Val1333=
NM_001171930.1:c.3999G>A
c.3999G>A
p.Val1333Val
NP_001165401.1:p.Val1333=
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,732,270 - 71,732,270CLINVAR
GRCh371073,492,027 - 73,492,027CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608797
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.