ClinVar

NM_000154.2(GALK1):c.410del (p.Gly137fs)

Gene:

GALK1:galactokinase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 75763385 (on Assembly GRCh38)
• Chr17: 73759466 (on Assembly GRCh37)

Preferred name:

NM_000154.2(GALK1):c.410del (p.Gly137fs)

HGVS:

• NC_000017.11:g.75763390del
• NG_008079.1:g.6815del
• NM_000154.2:c.410delMANE SELECT
• NP_000145.1:p.Gly137fs
• LRG_1430t1:c.410del
• LRG_1430p1:p.Gly137fs
• NC_000017.10:g.73759466del
• NC_000017.10:g.73759471del
• NC_000017.11:g.75763385delC
• NM_000154.1:c.410del
• NM_000154.1:c.410delG

This HGVS expression did not pass validation

Protein change:

G137fs

Links:

dbSNP: rs767329054

NCBI 1000 Genomes Browser:

rs767329054

Molecular consequence:

• NM_000154.2:c.410del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

2