ClinVar

NM_000254.3(MTR):c.765-234G>A

Gene:

MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

• Chr1: 236823885 (on Assembly GRCh38)
• Chr1: 236987185 (on Assembly GRCh37)

Preferred name:

NM_000254.3(MTR):c.765-234G>A

HGVS:

• NC_000001.11:g.236823885G>A
• NG_008959.1:g.33605G>A
• NM_000254.3:c.765-234G>AMANE SELECT
• NM_001291939.1:c.765-234G>A
• NM_001291940.2:c.-344-234G>A
• NC_000001.10:g.236987185G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs3890786

NCBI 1000 Genomes Browser:

rs3890786

Molecular consequence:

• NM_000254.3:c.765-234G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291939.1:c.765-234G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291940.2:c.-344-234G>A - intron variant - [Sequence Ontology: SO:0001627]