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Variant : CV175253 (NM_022124.5(CDH23):c.4000C>T (p.Arg1334Trp)) Homo sapiens

Symbol: CV175253
Name: NM_022124.5(CDH23):c.4000C>T (p.Arg1334Trp)
Condition: Deafness, autosomal recessive 12 [RCV000764917]|not specified [RCV000155442]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2018
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: C10orf105   CDH23  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.4000C>T
NM_001171930.1:c.4000C>T
NG_008835.1:g.340325C>T
NC_000010.11:g.71732271C>T
NC_000010.10:g.73492028C>T
NP_071407.4:p.Arg1334Trp
NP_001165401.1:p.Arg1334Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,732,271 - 71,732,271CLINVAR
GRCh371073,492,028 - 73,492,028CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; PITUITARY ADENOMA 5, MULTIPLE TYPES; Usher syndrome, type 1D; USHER SYNDROME, TYPE ID



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9689825
Created: 2015-02-10
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.