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Variant : CV548739 (NM_000154.2(GALK1):c.410del (p.Gly137fs)) Homo sapiens

Symbol: CV548739
Name: NM_000154.2(GALK1):c.410del (p.Gly137fs)
Condition: Deficiency of galactokinase [RCV000667929]
Clinical Significance: likely pathogenic
Last Evaluated: 06/27/2017
Review Status: criteria provided, single submitter
Related Genes: GALK1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NG_008079.1:g.6815del
NM_000154.2:c.410del
NC_000017.11:g.75763390del
NC_000017.10:g.73759471del
NM_000154.1:c.410delG
NP_000145.1:p.Gly137fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381775,763,385 - 75,763,385CLINVAR
GRCh371773,759,465 - 73,759,466CLINVAR
Cytogenetic Map1717q25.1CLINVAR
Trait Synonyms: GALACTOSEMIA II



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13791813
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.