ClinVar

NM_000157.4(GBA1):c.685G>A (p.Ala229Thr)

Genes:

LOC106627981:GBA recombination region [Gene]
GBA1:glucosylceramidase beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155238210 (on Assembly GRCh38)
• Chr1: 155208001 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.685G>A (p.Ala229Thr)

Other names:

p.Ala229Thr

HGVS:

• NC_000001.11:g.155238210C>T
• NG_009783.1:g.11488G>A
• NG_042867.1:g.4672C>T
• NM_000157.4:c.685G>AMANE SELECT
• NM_001005741.3:c.685G>A
• NM_001005742.3:c.685G>A
• NM_001171811.2:c.424G>A
• NM_001171812.2:c.538G>A
• NP_000148.2:p.Ala229Thr
• NP_001005741.1:p.Ala229Thr
• NP_001005742.1:p.Ala229Thr
• NP_001165282.1:p.Ala142Thr
• NP_001165283.1:p.Ala180Thr
• NC_000001.10:g.155208001C>T

This HGVS expression did not pass validation

Protein change:

A142T

Molecular consequence:

• NM_000157.4:c.685G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.685G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.685G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1