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Variant : CV294907 (NM_182760.4(SUMF1):c.*675A>C) Homo sapiens

Symbol: CV294907
Name: NM_182760.4(SUMF1):c.*675A>C
Condition: Multiple sulfatase deficiency [RCV000349876]
Clinical Significance: 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.110814A>C
NC_000003.12:g.4361469T>G
NC_000003.11:g.4403153T>G
NM_182760.4:c.*675A>C
NM_001164674.1:c.*675A>C
NM_001164675.1:c.*675A>C
NG_016225.2:g.110814A>C
NM_182760.3:c.*675A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3834,361,469 - 4,361,469CLINVAR
GRCh3734,403,153 - 4,403,153CLINVAR
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: 11593558
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.