ClinVar

NM_002061.4(GCLM):c.748T>G (p.Tyr250Asp)

Gene:

GCLM:glutamate-cysteine ligase modifier subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 93889067 (on Assembly GRCh38)
• Chr1: 94354623 (on Assembly GRCh37)

Preferred name:

NM_002061.4(GCLM):c.748T>G (p.Tyr250Asp)

HGVS:

• NC_000001.11:g.93889067A>C
• NG_012072.1:g.25390T>G
• NM_001308253.2:c.682T>G
• NM_002061.4:c.748T>GMANE SELECT
• NP_001295182.1:p.Tyr228Asp
• NP_002052.1:p.Tyr250Asp
• NC_000001.10:g.94354623A>C
• NM_002061.2:c.748T>G

This HGVS expression did not pass validation

Protein change:

Y228D

Links:

dbSNP: rs386352307

NCBI 1000 Genomes Browser:

rs386352307

Molecular consequence:

• NM_001308253.2:c.682T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002061.4:c.748T>G - missense variant - [Sequence Ontology: SO:0001583]