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Variant : CV439916 (NM_022124.5(CDH23):c.6712+1G>A) Homo sapiens

Symbol: CV439916
Name: NM_022124.5(CDH23):c.6712+1G>A
Condition: Deafness, autosomal recessive 12 [RCV000515725]
Clinical Significance: pathogenic
Last Evaluated: 07/01/2017
Review Status: 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_000010.11:g.71793641G>A
NM_022124.5:c.6712+1G>A
NG_008835.1:g.401695G>A
NC_000010.10:g.73553398G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,641 - 71,793,641CLINVAR
GRCh371073,553,398 - 73,553,398CLINVAR
Cytogenetic Map1010q22.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13463120
Created: 2017-12-12
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.