ClinVar

NM_000175.5(GPI):c.45A>G (p.Gln15=)

Gene:

GPI:glucose-6-phosphate isomerase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 34365311 (on Assembly GRCh38)
• Chr19: 34856216 (on Assembly GRCh37)

Preferred name:

NM_000175.5(GPI):c.45A>G (p.Gln15=)

HGVS:

• NC_000019.10:g.34365311A>G
• NG_012838.3:g.10720A>G
• NM_000175.4:c.45A>G
• NM_000175.5:c.45A>GMANE SELECT
• NM_001184722.1:c.162A>G
• NM_001289789.1:c.162A>G
• NM_001289790.3:c.45A>G
• NM_001329909.1:c.45A>G
• NM_001329910.1:c.45A>G
• NM_001329911.2:c.45A>G
• NP_000166.2:p.Gln15=
• NP_001171651.1:p.Gln54=
• NP_001276718.1:p.Gln54=
• NP_001276719.1:p.Gln15=
• NP_001316838.1:p.Gln15=
• NP_001316839.1:p.Gln15=
• NP_001316840.1:p.Gln15=
• LRG_1178t1:c.45A>G
• LRG_1178:g.10720A>G
• LRG_1178p1:p.Gln15=
• NC_000019.9:g.34856216A>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_000175.5:c.45A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001184722.1:c.162A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289789.1:c.162A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289790.3:c.45A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001329909.1:c.45A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001329910.1:c.45A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001329911.2:c.45A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1