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Variant : CV55179 (NM_022124.5(CDH23):c.6614C>T (p.Pro2205Leu)) Homo sapiens

Symbol: CV55179
Name: NM_022124.5(CDH23):c.6614C>T (p.Pro2205Leu)
Condition: AllHighlyPenetrant [RCV000039250]|Inborn genetic diseases [RCV000210550]|Usher syndrome [RCV000758142]|not provided [RCV000171176]|not specified [RCV000039250]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 10/23/2018
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided|reviewed by expert panel
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|curation|research
HGVS Name(s): NM_022124.5:c.6614C>T
NG_008835.1:g.401596C>T
NC_000010.11:g.71793542C>T
NC_000010.10:g.73553299C>T
NP_071407.4:p.Pro2205Leu
c.6614C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,542 - 71,793,542CLINVAR
GRCh371073,553,299 - 73,553,299CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; Usher Syndromes



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608876
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.