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Variant : CV55084 (NM_022124.5(CDH23):c.3480G>T (p.Met1160Ile)) Homo sapiens

Symbol: CV55084
Name: NM_022124.5(CDH23):c.3480G>T (p.Met1160Ile)
Condition: AllHighlyPenetrant [RCV000039152]|not specified [RCV000039152]
Clinical Significance: likely benign
Last Evaluated: 10/19/2014
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|intron|intron variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.3480G>T
NG_008835.1:g.333475G>T
NC_000010.11:g.71725421G>T
NC_000010.10:g.73485178G>T
NP_071407.4:p.Met1160Ile
c.3480G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,725,421 - 71,725,421CLINVAR
GRCh371073,485,178 - 73,485,178CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608781
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.