ClinVar

NM_005957.5(MTHFR):c.1031+117G>A

Gene:

MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11794981 (on Assembly GRCh38)
• Chr1: 11855038 (on Assembly GRCh37)

Preferred name:

NM_005957.5(MTHFR):c.1031+117G>A

HGVS:

• NC_000001.11:g.11794981C>T
• NG_013351.1:g.16123G>A
• NM_001330358.2:c.1154+117G>A
• NM_005957.5:c.1031+117G>AMANE SELECT
• LRG_726:g.16123G>A
• NC_000001.10:g.11855038C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2066465

NCBI 1000 Genomes Browser:

rs2066465

Molecular consequence:

• NM_001330358.2:c.1154+117G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005957.5:c.1031+117G>A - intron variant - [Sequence Ontology: SO:0001627]