ClinVar

NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155237576 (on Assembly GRCh38)
• Chr1: 155207367 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)

Other names:

F216Y

HGVS:

• NC_000001.11:g.155237576A>T
• NG_009783.1:g.12122T>A
• NG_042867.1:g.4038A>T
• NM_000157.4:c.764T>AMANE SELECT
• NM_001005741.3:c.764T>A
• NM_001005742.3:c.764T>A
• NM_001171811.2:c.503T>A
• NM_001171812.2:c.617T>A
• NP_000148.2:p.Phe255Tyr
• NP_001005741.1:p.Phe255Tyr
• NP_001005742.1:p.Phe255Tyr
• NP_001165282.1:p.Phe168Tyr
• NP_001165283.1:p.Phe206Tyr
• NC_000001.10:g.155207367A>T
• NM_001005741.2(GBA):c.764T>A
• NM_001005741.2:c.764T>A
• NM_001005741.3:c.764T>A
• P04062:p.Phe255Tyr

This HGVS expression did not pass validation

Protein change:

F168Y; PHE216TYR

Links:

UniProtKB: P04062#VAR_003282; OMIM: 606463.0010; dbSNP: rs74500255

NCBI 1000 Genomes Browser:

rs74500255

Molecular consequence:

• NM_000157.4:c.764T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.764T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.764T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.503T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.617T>A - missense variant - [Sequence Ontology: SO:0001583]