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Variant : CV548357 (NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)) Homo sapiens

Symbol: CV548357
Name: NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)
Condition: Deficiency of galactokinase [RCV000669092]
Clinical Significance: uncertain significance
Last Evaluated: 08/30/2017
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): NM_000154.2:c.202C>T
NC_000017.11:g.75764050G>A
NC_000017.10:g.73760131G>A
NG_008079.1:g.6150C>T
NP_000145.1:p.Arg68Cys
NM_000154.1:c.202C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381775,764,050 - 75,764,050CLINVAR
GRCh371773,760,131 - 73,760,131CLINVAR
Cytogenetic Map1717q25.1CLINVAR
Trait Synonyms: GALACTOSEMIA II



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13782623
Created: 2018-09-11
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.