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Variant : CV353139 (NG_009301.1:g.40968C>T) Homo sapiens

Symbol: CV353139
Name: NG_009301.1:g.40968C>T
Condition: Atypical Gaucher Disease [RCV000260479]|Combined saposin deficiency [RCV000332344]|Galactosylceramide beta-galactosidase deficiency [RCV000389276]|Metachromatic leukodystrophy [RCV000292479]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CDH23   PSAP  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NG_009301.1:g.40968C>T
NC_000010.11:g.71815358G>A
NC_000010.10:g.73575115G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381071,815,358 - 71,815,358CLINVAR
GRCh371073,575,115 - 73,575,115CLINVAR
Cytogenetic Map1010q22.1CLINVAR
Trait Synonyms: 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

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11665234
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.