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Variant : CV290467 (NM_182760.4(SUMF1):c.491A>T (p.Glu164Val)) Homo sapiens

Symbol: CV290467
Name: NM_182760.4(SUMF1):c.491A>T (p.Glu164Val)
Condition: Multiple sulfatase deficiency [RCV000407272]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SUMF1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001164674.1:c.444+3582A>T
NG_016225.1:g.22989A>T
NC_000003.12:g.4449294T>A
NC_000003.11:g.4490978T>A
NP_877437.2:p.Glu164Val
NM_001164675.1:c.491A>T
NM_182760.4:c.491A>T
NG_016225.2:g.22989A>T
NM_182760.3:c.491A>T
NP_001158147.1:p.Glu164Val
Position
Human AssemblyChrPosition (strand)Source
GRCh3834,449,294 - 4,449,294CLINVAR
GRCh3734,490,978 - 4,490,978CLINVAR
Cytogenetic Map33p26.1CLINVAR
Trait Synonyms: Multiple Sulfatase Deficiency Disease; Sulfatidosis, Juvenile, Austin Type
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11664581
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.