ClinVar

NM_000404.4(GLB1):c.1833G>A (p.Ser611=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.3

Genomic location:

• Chr3: 32997246 (on Assembly GRCh38)
• Chr3: 33038738 (on Assembly GRCh37)

Preferred name:

NM_000404.4(GLB1):c.1833G>A (p.Ser611=)

HGVS:

• NC_000003.12:g.32997246C>T
• NG_009005.1:g.104957G>A
• NM_000404.3:c.1833G>A
• NM_000404.4:c.1833G>AMANE SELECT
• NM_001079811.3:c.1743G>A
• NM_001135602.3:c.1440G>A
• NM_001317040.2:c.1977G>A
• NM_001393580.1:c.1734+16810G>A
• NP_000395.3:p.Ser611=
• NP_001073279.2:p.Ser581=
• NP_001129074.2:p.Ser480=
• NP_001303969.2:p.Ser659=
• NC_000003.11:g.33038738C>T
• NM_000404.2:c.1833G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs201755284

NCBI 1000 Genomes Browser:

rs201755284

Molecular consequence:

• NM_001393580.1:c.1734+16810G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000404.4:c.1833G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001079811.3:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001135602.3:c.1440G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317040.2:c.1977G>A - synonymous variant - [Sequence Ontology: SO:0001819]