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Variant : CV310727 (NM_022124.5(CDH23):c.6429G>A (p.Thr2143=)) Homo sapiens

Symbol: CV310727
Name: NM_022124.5(CDH23):c.6429G>A (p.Thr2143=)
Condition: Nonsyndromic Hearing Loss, Recessive [RCV000280841]|Retinitis pigmentosa-deafness syndrome [RCV000331450]|not provided [RCV000730499]|not specified [RCV000600911]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 11/30/2017
Review Status: criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.6429G>A
NG_008835.1:g.401411G>A
NC_000010.11:g.71793357G>A
NC_000010.10:g.73553114G>A
NP_071407.4:p.Thr2143=
p.Thr2143Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,793,357 - 71,793,357CLINVAR
GRCh371073,553,114 - 73,553,114CLINVAR
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: 11601270
Created: 2017-01-11
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.