ClinVar

NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.3

Genomic location:

• Chr3: 33018510 (on Assembly GRCh38)
• Chr3: 33060002 (on Assembly GRCh37)

Preferred name:

NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)

Other names:

p.Pro429Ser

HGVS:

• NC_000003.12:g.33018510G>A
• NG_009005.1:g.83693C>T
• NM_000404.4:c.1285C>TMANE SELECT
• NM_001079811.3:c.1195C>T
• NM_001135602.3:c.892C>T
• NM_001317040.2:c.1429C>T
• NM_001393580.1:c.1285C>T
• NP_000395.3:p.Pro429Ser
• NP_001073279.2:p.Pro399Ser
• NP_001129074.2:p.Pro298Ser
• NP_001303969.2:p.Pro477Ser
• NP_001380509.1:p.Pro429Ser
• NC_000003.11:g.33060002G>A
• NM_000404.2:c.1285C>T

This HGVS expression did not pass validation

Protein change:

P298S

Links:

dbSNP: rs180869784

NCBI 1000 Genomes Browser:

rs180869784

Molecular consequence:

• NM_000404.4:c.1285C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079811.3:c.1195C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135602.3:c.892C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317040.2:c.1429C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393580.1:c.1285C>T - missense variant - [Sequence Ontology: SO:0001583]