ClinVar

NM_018960.6(GNMT):c.470G>A (p.Arg157Gln)

Genes:

CNPY3-GNMT:CNPY3-GNMT readthrough [Gene]
GNMT:glycine N-methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 42963090 (on Assembly GRCh38)
• Chr6: 42930828 (on Assembly GRCh37)

Preferred name:

NM_018960.6(GNMT):c.470G>A (p.Arg157Gln)

HGVS:

• NC_000006.12:g.42963090G>A
• NG_008370.1:g.21154C>T
• NG_008396.1:g.7329G>A
• NM_001318856.2:c.272G>A
• NM_001318857.2:c.287G>A
• NM_001318858.2:c.269-90G>A
• NM_001318865.2:c.452-39G>A
• NM_018960.6:c.470G>AMANE SELECT
• NP_001305785.1:p.Arg91Gln
• NP_001305786.1:p.Arg96Gln
• NP_061833.1:p.Arg157Gln
• NC_000006.11:g.42930828G>A
• NM_018960.4:c.470G>A

This HGVS expression did not pass validation

Protein change:

R157Q

Molecular consequence:

• NM_001318858.2:c.269-90G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318865.2:c.452-39G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318856.2:c.272G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318857.2:c.287G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018960.6:c.470G>A - missense variant - [Sequence Ontology: SO:0001583]