Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV55087 (NM_022124.5(CDH23):c.3550G>A (p.Asp1184Asn)) Homo sapiens

Symbol: CV55087
Name: NM_022124.5(CDH23):c.3550G>A (p.Asp1184Asn)
Condition: AllHighlyPenetrant [RCV000039155]|not specified [RCV000039155]
Clinical Significance: uncertain significance
Last Evaluated: 09/25/2011
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: intron|intron variant|missense|missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.3550G>A
NG_008835.1:g.333545G>A
NC_000010.11:g.71725491G>A
NC_000010.10:g.73485248G>A
NP_071407.4:p.Asp1184Asn
c.3550G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,725,491 - 71,725,491CLINVAR
GRCh371073,485,248 - 73,485,248CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608784
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-16
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.