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Variant : CV345944 (NM_000154.2(GALK1):c.787C>T (p.Leu263=)) Homo sapiens

Symbol: CV345944
Name: NM_000154.2(GALK1):c.787C>T (p.Leu263=)
Condition: Deficiency of galactokinase [RCV000273795]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: GALK1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_000154.2:c.787C>T
NG_008079.1:g.7490C>T
NC_000017.11:g.75762710G>A
NC_000017.10:g.73758791G>A
NP_000145.1:p.Leu263=
NM_000154.1:c.787C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381775,762,710 - 75,762,710CLINVAR
GRCh371773,758,791 - 73,758,791CLINVAR
Cytogenetic Map1717q25.1CLINVAR
Trait Synonyms: GALACTOSEMIA II
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11646954
Created: 2017-01-11
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.