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Variant : CV55025 (NM_022124.5(CDH23):c.1068C>T (p.Ala356=)) Homo sapiens

Symbol: CV55025
Name: NM_022124.5(CDH23):c.1068C>T (p.Ala356=)
Condition: AllHighlyPenetrant [RCV000039093]|not specified [RCV000039093]
Clinical Significance: likely benign
Last Evaluated: 08/11/2014
Review Status: classified by single submitter|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.1068C>T
NG_008835.1:g.225381C>T
NC_000010.11:g.71617327C>T
NC_000010.10:g.73377084C>T
NP_071407.4:p.Ala356=
NM_001171932.1:c.1068C>T
c.1068C>T
p.Ala356Ala
NP_001165403.1:p.Ala356=
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,617,327 - 71,617,327CLINVAR
GRCh371073,377,084 - 73,377,084CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608722
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.