ClinVar

NM_198334.3(GANAB):c.1433G>A (p.Arg478Gln)

Gene:

GANAB:glucosidase II alpha subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 62630459 (on Assembly GRCh38)
• Chr11: 62397931 (on Assembly GRCh37)

Preferred name:

NM_198334.3(GANAB):c.1433G>A (p.Arg478Gln)

HGVS:

• NC_000011.10:g.62630459C>T
• NG_053018.1:g.21268G>A
• NM_001278192.2:c.1157G>A
• NM_001278193.2:c.1091G>A
• NM_001278194.2:c.1142G>A
• NM_001329222.2:c.1142G>A
• NM_001329223.2:c.1142G>A
• NM_001329224.2:c.710G>A
• NM_001329225.2:c.710G>A
• NM_198334.3:c.1433G>AMANE SELECT
• NM_198335.4:c.1499G>A
• NP_001265121.1:p.Arg386Gln
• NP_001265122.1:p.Arg364Gln
• NP_001265123.1:p.Arg381Gln
• NP_001316151.1:p.Arg381Gln
• NP_001316152.1:p.Arg381Gln
• NP_001316153.1:p.Arg237Gln
• NP_001316154.1:p.Arg237Gln
• NP_938148.1:p.Arg478Gln
• NP_938149.2:p.Arg500Gln
• NC_000011.9:g.62397931C>T

This HGVS expression did not pass validation

Protein change:

R237Q

Links:

dbSNP: rs1355968760

NCBI 1000 Genomes Browser:

rs1355968760

Molecular consequence:

• NM_001278192.2:c.1157G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278193.2:c.1091G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278194.2:c.1142G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329222.2:c.1142G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329223.2:c.1142G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329224.2:c.710G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329225.2:c.710G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198334.3:c.1433G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198335.4:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1