ClinVar

NM_000157.4(GBA1):c.168C>T (p.Val56=)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155240025 (on Assembly GRCh38)
• Chr1: 155209816 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.168C>T (p.Val56=)

HGVS:

• NC_000001.11:g.155240025G>A
• NG_009783.1:g.9673C>T
• NG_042867.1:g.6487G>A
• NM_000157.4:c.168C>TMANE SELECT
• NM_001005741.3:c.168C>T
• NM_001005742.3:c.168C>T
• NM_001171811.2:c.-94C>T
• NM_001171812.2:c.168C>T
• NP_000148.2:p.Val56=
• NP_001005741.1:p.Val56=
• NP_001005742.1:p.Val56=
• NP_001165283.1:p.Val56=
• NC_000001.10:g.155209816G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs145773486

NCBI 1000 Genomes Browser:

rs145773486

Molecular consequence:

• NM_001171811.2:c.-94C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000157.4:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005741.3:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001005742.3:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001171812.2:c.168C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1