ClinVar

NM_005957.5(MTHFR):c.*2456G>A

Genes:

C1orf167:chromosome 1 open reading frame 167 [Gene - HGNC]
MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11788224 (on Assembly GRCh38)
• Chr1: 11848281 (on Assembly GRCh37)

Preferred name:

NM_005957.5(MTHFR):c.*2456G>A

HGVS:

• NC_000001.11:g.11788224C>T
• NG_013351.1:g.22880G>A
• NG_089368.1:g.601C>T
• NM_001010881.2:c.3924C>TMANE SELECT
• NM_001330358.2:c.*2456G>A
• NM_001410750.1:c.*2456G>A
• NM_005957.5:c.*2456G>AMANE SELECT
• NP_001010881.1:p.His1308=
• LRG_726t1:c.*2456G>A
• LRG_726:g.22880G>A
• NC_000001.10:g.11848281C>T
• NM_005957.4:c.*2456G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs770536637

NCBI 1000 Genomes Browser:

rs770536637

Molecular consequence:

• NM_001330358.2:c.*2456G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001410750.1:c.*2456G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_005957.5:c.*2456G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001010881.2:c.3924C>T - synonymous variant - [Sequence Ontology: SO:0001819]