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Variant : CV55175 (NM_022124.5(CDH23):c.6426A>G (p.Leu2142=)) Homo sapiens

Symbol: CV55175
Name: NM_022124.5(CDH23):c.6426A>G (p.Leu2142=)
Condition: AllHighlyPenetrant [RCV000039245]|not provided [RCV000152951]|not provided [RCV000723748]|not specified [RCV000039245]
Clinical Significance: likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 11/12/2015
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.6426A>G
NG_008835.1:g.401408A>G
NC_000010.11:g.71793354A>G
NC_000010.10:g.73553111A>G
NP_071407.4:p.Leu2142=
c.6426A>G
p.Leu2142Leu
NP_071407.4:p.(=)
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,354 - 71,793,354CLINVAR
GRCh371073,553,111 - 73,553,111CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608872
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.