ClinVar

NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155235843 (on Assembly GRCh38)
• Chr1: 155205634 (on Assembly GRCh37)

Preferred name:

NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)

Other names:

N370S

HGVS:

• NC_000001.11:g.155235843T>C
• NG_009783.1:g.13855A>G
• NG_042867.1:g.2305T>C
• NM_000157.4:c.1226A>GMANE SELECT
• NM_001005741.3:c.1226A>G
• NM_001005742.3:c.1226A>G
• NM_001171811.2:c.965A>G
• NM_001171812.2:c.1079A>G
• NP_000148.2:p.Asn409Ser
• NP_001005741.1:p.Asn409Ser
• NP_001005741.1:p.Asn409Ser
• NP_001005742.1:p.Asn409Ser
• NP_001165282.1:p.Asn322Ser
• NP_001165283.1:p.Asn360Ser
• NC_000001.10:g.155205634T>C
• NM_000157.3:c.1226A>G
• NM_000157.4:c.1226A>G
• NM_001005741.2(GBA):c.1226A>G
• NM_001005741.2:c.1226A>G
• NM_001005741.3:c.1226A>G
• NM_001005742.2:c.1226A>G
• NM_001171811.1:c.965A>G
• P04062:p.Asn409Ser
• c.1226A>G (p.Asn409Ser)

This HGVS expression did not pass validation

Protein change:

N322S; ASN370SER

Links:

UniProtKB: P04062#VAR_003302; OMIM: 606463.0003; dbSNP: rs76763715

NCBI 1000 Genomes Browser:

rs76763715

Molecular consequence:

• NM_000157.4:c.1226A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005741.3:c.1226A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005742.3:c.1226A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171811.2:c.965A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171812.2:c.1079A>G - missense variant - [Sequence Ontology: SO:0001583]