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Variant : CV548346 (NM_000154.2(GALK1):c.821G>A (p.Gly274Asp)) Homo sapiens

Symbol: CV548346
Name: NM_000154.2(GALK1):c.821G>A (p.Gly274Asp)
Condition: Deficiency of galactokinase [RCV000667836]
Clinical Significance: uncertain significance
Last Evaluated: 06/15/2017
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.11628G>A
NC_000017.11:g.75758572C>T
NC_000017.10:g.73754653C>T
NP_000145.1:p.Gly274Asp
NM_000154.2:c.821G>A
NG_007372.1:g.42138C>T
NM_000154.1:c.821G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381775,758,572 - 75,758,572CLINVAR
GRCh371773,754,653 - 73,754,653CLINVAR
Cytogenetic Map1717q25.1CLINVAR
Trait Synonyms: GALACTOSEMIA II



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13791736
Created: 2018-09-11
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.