ClinVar

NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys)

Gene:

MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11795276 (on Assembly GRCh38)
• Chr1: 11855333 (on Assembly GRCh37)

Preferred name:

NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys)

HGVS:

• NC_000001.11:g.11795276C>T
• NG_013351.1:g.15828G>A
• NM_001330358.2:c.976G>A
• NM_005957.5:c.853G>AMANE SELECT
• NP_001317287.1:p.Glu326Lys
• NP_005948.3:p.Glu285Lys
• LRG_726t1:c.853G>A
• LRG_726:g.15828G>A
• NC_000001.10:g.11855333C>T
• NM_005957.4:c.853G>A

This HGVS expression did not pass validation

Protein change:

E285K

Links:

dbSNP: rs372258648

NCBI 1000 Genomes Browser:

rs372258648

Molecular consequence:

• NM_001330358.2:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005957.5:c.853G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1