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Variant : CV322713 (NM_022124.5(CDH23):c.9799C>T (p.Arg3267Cys)) Homo sapiens

Symbol: CV322713
Name: NM_022124.5(CDH23):c.9799C>T (p.Arg3267Cys)
Condition: Atypical Gaucher Disease [RCV000337406]|CDH23-Related Disorders [RCV000403860]|Combined saposin deficiency [RCV000282351]|Galactosylceramide beta-galactosidase deficiency [RCV000340738]|Metachromatic leukodystrophy [RCV000376807]|Nonsyndromic Hearing Loss, Recessive [RCV000307536]|Retinitis pigmentosa-deafness syndrome [RCV000352717]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CDH23   PSAP  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_022124.5:c.9799C>T
NG_009301.1:g.41314G>A
NG_008835.1:g.423066C>T
NC_000010.11:g.71815012C>T
NC_000010.10:g.73574769C>T
NP_071407.4:p.Arg3267Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,815,012 - 71,815,012CLINVAR
GRCh371073,574,769 - 73,574,769CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: Arylsulfatase A Deficiency; COMBINED SAP DEFICIENCY; Leukodystrophy, Globoid Cell; PROSAPOSIN DEFICIENCY; RETINITIS PIGMENTOSA 21; RETINITIS PIGMENTOSA 8
Age Of Onset: adolescent|infancy
Prevalence: 1-9 / 1 000 000|1-9 / 100 000|<1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11665611
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.