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

Variant : CV55230 (NM_022124.5(CDH23):c.9015G>A (p.Ala3005=)) Homo sapiens

Symbol: CV55230
Name: NM_022124.5(CDH23):c.9015G>A (p.Ala3005=)
Condition: AllHighlyPenetrant [RCV000039301]|Nonsyndromic Hearing Loss, Recessive [RCV000380915]|Retinitis pigmentosa-deafness syndrome [RCV000288750]|not provided [RCV000124208]|not specified [RCV000039301]
Clinical Significance: benign|uncertain significance
Last Evaluated: 06/14/2016
Review Status: classified by multiple submitters|classified by single submitter|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.9015G>A
NG_008835.1:g.418561G>A
NC_000010.11:g.71810507G>A
NC_000010.10:g.73570264G>A
NP_071407.4:p.Ala3005=
c.9015G>A
p.Ala3005Ala
NP_071407.4:p.(=)
NM_001171935.1:c.-1785G>A
NM_001171932.1:c.*193027G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,810,507 - 71,810,507CLINVAR
GRCh371073,570,264 - 73,570,264CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608927
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



NHLBI Logo

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