ClinVar

NM_001031727.4(MRI1):c.707C>T (p.Ala236Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13768720 (on Assembly GRCh38)
• Chr19: 13879534 (on Assembly GRCh37)

Preferred name:

NM_001031727.4(MRI1):c.707C>T (p.Ala236Val)

HGVS:

• NC_000019.10:g.13768720C>T
• NG_051243.1:g.9229C>T
• NM_001031727.4:c.707C>TMANE SELECT
• NM_001329572.2:c.620C>T
• NM_032285.4:c.566C>T
• NP_001026897.1:p.Ala236Val
• NP_001316501.1:p.Ala207Val
• NP_115661.1:p.Ala189Val
• NC_000019.9:g.13879534C>T
• NR_138051.2:n.799C>T

This HGVS expression did not pass validation

Protein change:

A189V

Molecular consequence:

• NM_001031727.4:c.707C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329572.2:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032285.4:c.566C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_138051.2:n.799C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1