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Variant : CV17708 (NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)) Homo sapiens

Symbol: CV17708
Name: NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
Condition: Multiple sulfatase deficiency [RCV000002788]|not provided [RCV000082716]
Clinical Significance: pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 09/01/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: SUMF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|clinical testing
HGVS Name(s): NG_016225.1:g.55151C>T
NC_000003.12:g.4417132G>A
NC_000003.11:g.4458816G>A
NP_877437.2:p.Ala279Val
NP_001158147.1:p.Ala279Val
NM_001164675.1:c.836C>T
Q8NBK3:p.Ala279Val
NP_877437.2:p.Ala279Val
NM_001164674.1:c.761C>T
NM_182760.4:c.836C>T
NG_016225.2:g.55151C>T
NM_182760.3:c.836C>T
NP_001158146.1:p.Ala254Val
NP_877437.2:p.Ala279Val
Position
Human AssemblyChrPosition (strand)Source
GRCh3834,417,132 - 4,417,132CLINVAR
GRCh3734,458,816 - 4,458,816CLINVAR
Cytogenetic Map33p26.1CLINVAR
Trait Synonyms: Multiple Sulfatase Deficiency Disease; Sulfatidosis, Juvenile, Austin Type
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8595875
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.