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Variant : CV55222 (NM_022124.5(CDH23):c.8859C>T (p.Asp2953=)) Homo sapiens

Symbol: CV55222
Name: NM_022124.5(CDH23):c.8859C>T (p.Asp2953=)
Condition: AllHighlyPenetrant [RCV000039293]|not specified [RCV000039293]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 03/02/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001636)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.8859C>T
NG_008835.1:g.418010C>T
NC_000010.11:g.71809956C>T
NC_000010.10:g.73569713C>T
NP_071407.4:p.Asp2953=
c.8859C>T
p.Asp2953Asp
NM_001171935.1:c.-2336C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,809,956 - 71,809,956CLINVAR
GRCh371073,569,713 - 73,569,713CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608919
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.