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Variant : CV55239 (NM_022124.5(CDH23):c.9501G>A (p.Thr3167=)) Homo sapiens

Symbol: CV55239
Name: NM_022124.5(CDH23):c.9501G>A (p.Thr3167=)
Condition: AllHighlyPenetrant [RCV000039310]|Atypical Gaucher Disease [RCV000331531]|Combined saposin deficiency [RCV000386012]|Galactosylceramide beta-galactosidase deficiency [RCV000291787]|Metachromatic leukodystrophy [RCV000276340]|not provided [RCV000082090]|not specified [RCV000039310]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 07/06/2018
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: CDH23   PSAP  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.9501G>A
NG_008835.1:g.420654G>A
NC_000010.11:g.71812600G>A
NC_000010.10:g.73572357G>A
NP_071407.4:p.(=)
NP_071407.4:p.Thr3167=
c.9501G>A
p.Thr3167Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,812,600 - 71,812,600CLINVAR
GRCh371073,572,357 - 73,572,357CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; Arylsulfatase A Deficiency; COMBINED SAP DEFICIENCY; Leukodystrophy, Globoid Cell; PROSAPOSIN DEFICIENCY
Age Of Onset: adolescent|infancy
Prevalence: 1-9 / 1 000 000|1-9 / 100 000|<1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8608936
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.