ClinVar

NM_000404.4(GLB1):c.380G>A (p.Cys127Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.3

Genomic location:

• Chr3: 33068836 (on Assembly GRCh38)
• Chr3: 33110328 (on Assembly GRCh37)

Preferred name:

NM_000404.4(GLB1):c.380G>A (p.Cys127Tyr)

HGVS:

• NC_000003.12:g.33068836C>T
• NG_009005.1:g.33367G>A
• NM_000404.4:c.380G>AMANE SELECT
• NM_001079811.3:c.290G>A
• NM_001135602.3:c.246-3279G>A
• NM_001317040.2:c.524G>A
• NM_001393580.1:c.380G>A
• NP_000395.3:p.Cys127Tyr
• NP_001073279.2:p.Cys97Tyr
• NP_001303969.2:p.Cys175Tyr
• NP_001380509.1:p.Cys127Tyr
• NC_000003.11:g.33110328C>T

This HGVS expression did not pass validation

Protein change:

C127Y

Links:

dbSNP: rs1699791081

NCBI 1000 Genomes Browser:

rs1699791081

Molecular consequence:

• NM_001135602.3:c.246-3279G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000404.4:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079811.3:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317040.2:c.524G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393580.1:c.380G>A - missense variant - [Sequence Ontology: SO:0001583]