ClinVar

NM_002454.3(MTRR):c.1057+131A>G

Gene:

MTRR:5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.31

Genomic location:

• Chr5: 7885985 (on Assembly GRCh38)
• Chr5: 7886098 (on Assembly GRCh37)

Preferred name:

NM_002454.3(MTRR):c.1057+131A>G

HGVS:

• NC_000005.10:g.7885985A>G
• NG_008856.1:g.21882A>G
• NM_001364440.2:c.1057+131A>G
• NM_001364441.2:c.1057+131A>G
• NM_001364442.2:c.1057+131A>G
• NM_002454.3:c.1057+131A>GMANE SELECT
• NM_024010.4:c.1057+131A>G
• NC_000005.9:g.7886098A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs78869385

NCBI 1000 Genomes Browser:

rs78869385

Molecular consequence:

• NM_001364440.2:c.1057+131A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364441.2:c.1057+131A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364442.2:c.1057+131A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_002454.3:c.1057+131A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_024010.4:c.1057+131A>G - intron variant - [Sequence Ontology: SO:0001627]