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Variant : CV612090 (NM_022124.5(CDH23):c.8061C>G (p.Tyr2687Ter)) Homo sapiens

Symbol: CV612090
Name: NM_022124.5(CDH23):c.8061C>G (p.Tyr2687Ter)
Condition: Deafness, autosomal recessive 12 [RCV000761262]
Clinical Significance: likely pathogenic
Last Evaluated: 01/18/2018
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.8061C>G
NG_008835.1:g.414048C>G
NC_000010.11:g.71805994C>G
NC_000010.10:g.73565751C>G
p.Tyr2687X
NP_071407.4:p.Tyr2687Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,805,994 - 71,805,994CLINVAR
GRCh371073,565,751 - 73,565,751CLINVAR
Cytogenetic Map1010q22.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14396330
Created: 2019-04-09
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.