ClinVar

NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155238258 (on Assembly GRCh38)
• Chr1: 155208049 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)

HGVS:

• NC_000001.11:g.155238258G>A
• NG_009783.1:g.11440C>T
• NG_042867.1:g.4720G>A
• NM_000157.4:c.637C>TMANE SELECT
• NM_001005741.3:c.637C>T
• NM_001005742.3:c.637C>T
• NM_001171811.2:c.376C>T
• NM_001171812.2:c.490C>T
• NP_000148.2:p.Leu213Phe
• NP_001005741.1:p.Leu213Phe
• NP_001005742.1:p.Leu213Phe
• NP_001165282.1:p.Leu126Phe
• NP_001165283.1:p.Leu164Phe
• NC_000001.10:g.155208049G>A
• P04062:p.Leu213Phe

This HGVS expression did not pass validation

Protein change:

L126F

Links:

UniProtKB: P04062#VAR_032202; dbSNP: rs374591570

NCBI 1000 Genomes Browser:

rs374591570

Molecular consequence:

• NM_000157.4:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.490C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1