ClinVar

NM_000157.4(GBA1):c.1224G>A (p.Thr408=)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155236245 (on Assembly GRCh38)
• Chr1: 155206036 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.1224G>A (p.Thr408=)

HGVS:

• NC_000001.11:g.155236245C>T
• NG_009783.1:g.13453G>A
• NG_042867.1:g.2707C>T
• NM_000157.4:c.1224G>AMANE SELECT
• NM_001005741.3:c.1224G>A
• NM_001005742.3:c.1224G>A
• NM_001171811.2:c.963G>A
• NM_001171812.2:c.1077G>A
• NP_000148.2:p.Thr408=
• NP_001005741.1:p.Thr408=
• NP_001005742.1:p.Thr408=
• NP_001165282.1:p.Thr321=
• NP_001165283.1:p.Thr359=
• NC_000001.10:g.155206036C>T
• NM_001005741.2:c.1224G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs138498426

NCBI 1000 Genomes Browser:

rs138498426

Molecular consequence:

• NM_000157.4:c.1224G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005741.3:c.1224G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005742.3:c.1224G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171811.2:c.963G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171812.2:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]