ClinVar

NM_018960.6(GNMT):c.194C>T (p.Ala65Val)

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: 42960961 (on Assembly GRCh38)
• Chr6: 42928699 (on Assembly GRCh37)

Preferred name:

NM_018960.6(GNMT):c.194C>T (p.Ala65Val)

HGVS:

• NC_000006.12:g.42960961C>T
• NG_008396.1:g.5200C>T
• NG_108255.1:g.589C>T
• NM_001318856.2:c.9-1251C>T
• NM_001318857.2:c.152-1801C>T
• NM_001318858.2:c.152-1801C>T
• NM_001318865.2:c.194C>T
• NM_018960.6:c.194C>TMANE SELECT
• NP_001305794.1:p.Ala65Val
• NP_061833.1:p.Ala65Val
• NC_000006.11:g.42928699C>T
• NM_018960.4:c.194C>T
• NR_134899.2:n.208C>T

This HGVS expression did not pass validation

Protein change:

A65V

Molecular consequence:

• NM_001318856.2:c.9-1251C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318857.2:c.152-1801C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318858.2:c.152-1801C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318865.2:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018960.6:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_134899.2:n.208C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]