ClinVar

NM_001031727.4(MRI1):c.769G>A (p.Ala257Thr)

Gene:

MRI1:methylthioribose-1-phosphate isomerase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13768868 (on Assembly GRCh38)
• Chr19: 13879682 (on Assembly GRCh37)

Preferred name:

NM_001031727.4(MRI1):c.769G>A (p.Ala257Thr)

HGVS:

• NC_000019.10:g.13768868G>A
• NG_051243.1:g.9377G>A
• NM_001031727.4:c.769G>AMANE SELECT
• NM_001329572.2:c.682G>A
• NM_032285.4:c.628G>A
• NP_001026897.1:p.Ala257Thr
• NP_001316501.1:p.Ala228Thr
• NP_115661.1:p.Ala210Thr
• NC_000019.9:g.13879682G>A
• NM_001031727.2:c.769G>A
• NR_138051.2:n.861G>A

This HGVS expression did not pass validation

Protein change:

A210T

Molecular consequence:

• NM_001031727.4:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329572.2:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032285.4:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_138051.2:n.861G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]