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Variant : CV55101 (NM_022124.5(CDH23):c.4045C>T (p.Arg1349Cys)) Homo sapiens

Symbol: CV55101
Name: NM_022124.5(CDH23):c.4045C>T (p.Arg1349Cys)
Condition: AllHighlyPenetrant [RCV000039170]|not specified [RCV000039170]
Clinical Significance: benign
Last Evaluated: 09/22/2015
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|intron|missense variant|intron variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.4045C>T
NG_008835.1:g.340370C>T
NC_000010.11:g.71732316C>T
NC_000010.10:g.73492073C>T
NP_071407.4:p.Arg1349Cys
NM_001171930.1:c.4045C>T
c.4045C>T
NP_001165401.1:p.Arg1349Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,732,316 - 71,732,316CLINVAR
GRCh371073,492,073 - 73,492,073CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608798
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.