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Variant : CV329950 (NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp)) Homo sapiens

Symbol: CV329950
Name: NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp)
Condition: Deficiency of galactokinase [RCV000393397]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: GALK1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_008079.1:g.11979C>T
NC_000017.11:g.75758221G>A
NC_000017.10:g.73754302G>A
NP_000145.1:p.Arg366Trp
NM_000154.2:c.1096C>T
NG_007372.1:g.41787G>A
NM_000154.1:c.1096C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381775,758,221 - 75,758,221CLINVAR
GRCh371773,754,302 - 73,754,302CLINVAR
Cytogenetic Map1717q25.1CLINVAR
Trait Synonyms: GALACTOSEMIA II
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11625005
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.