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Variant : CV55121 (NM_022124.5(CDH23):c.4842G>C (p.Leu1614=)) Homo sapiens

Symbol: CV55121
Name: NM_022124.5(CDH23):c.4842G>C (p.Leu1614=)
Condition: AllHighlyPenetrant [RCV000039190]|not specified [RCV000039190]
Clinical Significance: benign
Last Evaluated: 05/01/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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.4842G>C
NG_008835.1:g.349972G>C
NC_000010.11:g.71741918G>C
NC_000010.10:g.73501675G>C
NP_071407.4:p.Leu1614=
c.4842G>C
p.Leu1614Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,741,918 - 71,741,918CLINVAR
GRCh371073,501,675 - 73,501,675CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608818
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.