ClinVar

NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)

Gene:

MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11791248 (on Assembly GRCh38)
• Chr1: 11851305 (on Assembly GRCh37)

Preferred name:

NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)

HGVS:

• NC_000001.11:g.11791248G>A
• NG_013351.1:g.19856C>T
• NM_001330358.2:c.1834C>T
• NM_005957.5:c.1711C>TMANE SELECT
• NP_001317287.1:p.Gln612Ter
• NP_005948.3:p.Gln571Ter
• LRG_726t1:c.1711C>T
• LRG_726:g.19856C>T
• NC_000001.10:g.11851305G>A
• NC_000001.10:g.11851305G>A
• NM_005957.4:c.1711C>T

This HGVS expression did not pass validation

Protein change:

Q571*

Links:

Molecular consequence:

• NM_001330358.2:c.1834C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_005957.5:c.1711C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1