ClinVar

NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.3

Genomic location:

• Chr3: 32997311 (on Assembly GRCh38)
• Chr3: 33038803 (on Assembly GRCh37)

Preferred name:

NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)

Other names:

p.Arg590Cys

HGVS:

• NC_000003.12:g.32997311G>A
• NG_009005.1:g.104892C>T
• NM_000404.4:c.1768C>TMANE SELECT
• NM_001079811.3:c.1678C>T
• NM_001135602.3:c.1375C>T
• NM_001317040.2:c.1912C>T
• NM_001393580.1:c.1734+16745C>T
• NP_000395.3:p.Arg590Cys
• NP_001073279.2:p.Arg560Cys
• NP_001129074.2:p.Arg459Cys
• NP_001303969.2:p.Arg638Cys
• NC_000003.11:g.33038803G>A
• NM_000404.2:c.1768C>T
• NM_000404.3:c.1768C>T

This HGVS expression did not pass validation

Protein change:

R459C

Links:

dbSNP: rs794727165

NCBI 1000 Genomes Browser:

rs794727165

Molecular consequence:

• NM_001393580.1:c.1734+16745C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000404.4:c.1768C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079811.3:c.1678C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135602.3:c.1375C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317040.2:c.1912C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Unknown function

Observations:

3