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Variant : CV55076 (NM_022124.5(CDH23):c.3249G>A (p.Thr1083=)) Homo sapiens

Symbol: CV55076
Name: NM_022124.5(CDH23):c.3249G>A (p.Thr1083=)
Condition: AllHighlyPenetrant [RCV000039144]|Nonsyndromic Hearing Loss, Recessive [RCV000382245]|Retinitis pigmentosa-deafness syndrome [RCV000325350]|not specified [RCV000039144]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 10/09/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant|3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.3249G>A
NG_008835.1:g.320747G>A
NC_000010.11:g.71712693G>A
NC_000010.10:g.73472450G>A
NP_071407.4:p.Thr1083=
c.3249G>A
p.Thr1083Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,712,693 - 71,712,693CLINVAR
GRCh371073,472,450 - 73,472,450CLINVAR
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: 8608773
Created: 2014-05-13
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.