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Variant : CV55107 (NM_022124.5(CDH23):c.4299T>A (p.Pro1433=)) Homo sapiens

Symbol: CV55107
Name: NM_022124.5(CDH23):c.4299T>A (p.Pro1433=)
Condition: AllHighlyPenetrant [RCV000039176]|Nonsyndromic Hearing Loss, Recessive [RCV000344095]|Retinitis pigmentosa-deafness syndrome [RCV000291538]|not provided [RCV000124194]|not specified [RCV000039176]
Clinical Significance: benign|likely benign
Last Evaluated: 06/14/2016
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CDH23  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant|2kb upstream variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.4299T>A
NG_008835.1:g.346641T>A
NC_000010.11:g.71738587T>A
NC_000010.10:g.73498344T>A
NP_071407.4:p.(=)
NP_071407.4:p.Pro1433=
c.4299T>A
p.Pro1433Pro
NM_001171932.1:c.*121107T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,738,587 - 71,738,587CLINVAR
GRCh371073,498,344 - 73,498,344CLINVAR
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: 8608804
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.