ClinVar

NM_148172.3(PEMT):c.634G>A (p.Val212Met)

Gene:

PEMT:phosphatidylethanolamine N-methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 17506246 (on Assembly GRCh38)
• Chr17: 17409560 (on Assembly GRCh37)

Preferred name:

NM_148172.3(PEMT):c.634G>A (p.Val212Met)

HGVS:

• NC_000017.11:g.17506246C>T
• NM_001267551.2:c.568G>A
• NM_001267552.2:c.665G>A
• NM_007169.3:c.523G>A
• NM_148172.3:c.634G>AMANE SELECT
• NM_148173.2:c.523G>A
• NP_001254480.1:p.Val190Met
• NP_001254481.1:p.Ser222Asn
• NP_009100.2:p.Val175Met
• NP_680477.1:p.Val212Met
• NP_680478.1:p.Val175Met
• NC_000017.10:g.17409560C>T
• NM_007169.2:c.523G>A

This HGVS expression did not pass validation

Protein change:

S222N

Links:

dbSNP: rs7946

NCBI 1000 Genomes Browser:

rs7946

Molecular consequence:

• NM_001267551.2:c.568G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267552.2:c.665G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007169.3:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_148172.3:c.634G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_148173.2:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]