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Variant : CV294928 (NM_182760.4(SUMF1):c.*398C>T) Homo sapiens

Symbol: CV294928
Name: NM_182760.4(SUMF1):c.*398C>T
Condition: Multiple sulfatase deficiency [RCV000304683]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SUMF1  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_016225.1:g.110537C>T
NC_000003.12:g.4361746G>A
NC_000003.11:g.4403430G>A
NM_182760.4:c.*398C>T
NG_016225.2:g.110537C>T
NM_001164674.1:c.*398C>T
NM_001164675.1:c.*398C>T
NM_182760.3:c.*398C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3834,361,746 - 4,361,746CLINVAR
GRCh3734,403,430 - 4,403,430CLINVAR
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: 11588660
Created: 2017-01-11
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.