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

Variant : CV247044 (NM_022124.5(CDH23):c.1621G>A (p.Glu541Lys)) Homo sapiens

Symbol: CV247044
Name: NM_022124.5(CDH23):c.1621G>A (p.Glu541Lys)
Condition: Nonsyndromic Hearing Loss, Recessive [RCV000360659]|Retinitis pigmentosa-deafness syndrome [RCV000306555]|not specified [RCV000238717]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.1621G>A
NG_008835.1:g.285616G>A
NC_000010.11:g.71677562G>A
NC_000010.10:g.73437319G>A
NP_071407.4:p.Glu541Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,677,562 - 71,677,562CLINVAR
GRCh371073,437,319 - 73,437,319CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11525692
Created: 2016-08-09
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.