ClinVar

NM_000845.3(GRM8):c.182G>A (p.Gly61Glu)

Gene:

GRM8:glutamate metabotropic receptor 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.33

Genomic location:

• Chr7: 127243023 (on Assembly GRCh38)
• Chr7: 126883077 (on Assembly GRCh37)

Preferred name:

NM_000845.3(GRM8):c.182G>A (p.Gly61Glu)

HGVS:

• NC_000007.14:g.127243023C>T
• NG_029532.1:g.14352G>A
• NG_029532.2:g.14918G>A
• NM_000845.3:c.182G>AMANE SELECT
• NM_001127323.1:c.182G>A
• NM_001127326.1:c.182G>A
• NM_001371083.1:c.182G>A
• NM_001371084.1:c.182G>A
• NM_001371085.1:c.182G>A
• NM_001371086.1:c.182G>A
• NM_001371087.1:c.-106+9774G>A
• NM_001371088.1:c.182G>A
• NP_000836.2:p.Gly61Glu
• NP_001120795.1:p.Gly61Glu
• NP_001120798.1:p.Gly61Glu
• NP_001358012.1:p.Gly61Glu
• NP_001358013.1:p.Gly61Glu
• NP_001358014.1:p.Gly61Glu
• NP_001358015.1:p.Gly61Glu
• NP_001358017.1:p.Gly61Glu
• NC_000007.13:g.126883077C>T
• NR_028041.1:n.493G>A
• NR_163849.1:n.638G>A

This HGVS expression did not pass validation

Protein change:

G61E

Molecular consequence:

• NM_001371087.1:c.-106+9774G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000845.3:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127323.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127326.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371083.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371084.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371085.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371086.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371088.1:c.182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_028041.1:n.493G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_163849.1:n.638G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]