ClinVar

NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)

Gene:

GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.3

Genomic location:

• Chr3: 33053508 (on Assembly GRCh38)
• Chr3: 33095000 (on Assembly GRCh37)

Preferred name:

NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)

HGVS:

• NC_000003.12:g.33053508C>A
• NG_009005.1:g.48695G>T
• NM_000404.4:c.775G>TMANE SELECT
• NM_001079811.3:c.685G>T
• NM_001135602.3:c.382G>T
• NM_001317040.2:c.919G>T
• NP_000395.3:p.Glu259Ter
• NP_001073279.2:p.Glu229Ter
• NP_001129074.2:p.Glu128Ter
• NP_001303969.2:p.Glu307Ter
• NC_000003.11:g.33095000C>A

This HGVS expression did not pass validation

Protein change:

E128*

Links:

dbSNP: rs1699086565

NCBI 1000 Genomes Browser:

rs1699086565

Molecular consequence:

• NM_000404.4:c.775G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001079811.3:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001135602.3:c.382G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001317040.2:c.919G>T - nonsense - [Sequence Ontology: SO:0001587]