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Variant : CV497160 (NM_022124.5(CDH23):c.2954-15C>T) Homo sapiens

Symbol: CV497160
Name: NM_022124.5(CDH23):c.2954-15C>T
Condition: not specified [RCV000603194]
Clinical Significance: likely benign
Last Evaluated: 07/21/2016
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_008835.1:g.314936C>T
NM_022124.5:c.2954-15C>T
NC_000010.10:g.73466639C>T
NM_001171931.1:c.2954-15C>T
NC_000010.11:g.71706882C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,706,882 - 71,706,882CLINVAR
GRCh371073,466,639 - 73,466,639CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13525463
Created: 2018-05-08
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.