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Variant : CV548384 (NM_000154.2(GALK1):c.1A>C (p.Met1Leu)) Homo sapiens

Symbol: CV548384
Name: NM_000154.2(GALK1):c.1A>C (p.Met1Leu)
Condition: Deficiency of galactokinase [RCV000672148]
Clinical Significance: likely pathogenic
Last Evaluated: 01/17/2018
Review Status: criteria provided, single submitter
Related Genes: GALK1  
Variant Type: single nucleotide variant (SO:0001582)
Source: CLINVAR
Molecular Consequence: initiatior codon variant|missense variant
Evidence: clinical testing
HGVS Name(s): NP_000145.1:p.Met1Leu
NC_000017.10:g.73761217T>G
NG_008079.1:g.5064A>C
NC_000017.11:g.75765136T>G
NM_000154.2:c.1A>C
NM_000154.1:c.1A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381775,765,136 - 75,765,136CLINVAR
GRCh371773,761,217 - 73,761,217CLINVAR
Cytogenetic Map1717q25.1CLINVAR
Trait Synonyms: GALACTOSEMIA II



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13785592
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.