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Variant : CV17704 (NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter)) Homo sapiens

Symbol: CV17704
Name: NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter)
Condition: Multiple sulfatase deficiency [RCV000002784]
Clinical Significance: pathogenic
Last Evaluated: 12/05/2017
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: SUMF1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|nonsense|intron variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_001164675.1:c.955-14111C>T
NG_016225.1:g.95918C>T
NC_000003.12:g.4376365G>A
NC_000003.11:g.4418049G>A
NP_877437.2:p.Arg327Ter
NM_001164674.1:c.904C>T
NM_182760.4:c.979C>T
NG_016225.2:g.95918C>T
NM_182760.3:c.979C>T
NP_001158146.1:p.Arg302Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh3834,376,365 - 4,376,365CLINVAR
GRCh3734,418,049 - 4,418,049CLINVAR
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: 8595871
Created: 2014-05-13
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.