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Variant : CV496950 (NM_022124.5(CDH23):c.2289+1G>A) Homo sapiens

Symbol: CV496950
Name: NM_022124.5(CDH23):c.2289+1G>A
Condition: Usher syndrome, type 1D [RCV000611540]
Clinical Significance: pathogenic
Last Evaluated: 09/12/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): NC_000010.10:g.73454017G>A
NM_022124.5:c.2289+1G>A
NG_008835.1:g.302314G>A
NC_000010.11:g.71694260G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,694,260 - 71,694,260CLINVAR
GRCh371073,454,017 - 73,454,017CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: USHER SYNDROME, TYPE ID



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13528816
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.