ClinVar

NM_001113528.2(METTL15):c.809G>T (p.Arg270Leu)

Gene:

METTL15:methyltransferase 15, mitochondrial 12S rRNA N4-cytidine [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p14.1

Genomic location:

• Chr11: 28330426 (on Assembly GRCh38)
• Chr11: 28351973 (on Assembly GRCh37)

Preferred name:

NM_001113528.2(METTL15):c.809G>T (p.Arg270Leu)

HGVS:

• NC_000011.10:g.28330426G>T
• NM_001113528.2:c.809G>TMANE SELECT
• NM_001297775.2:c.765G>T
• NM_152636.3:c.*58G>T
• NP_001107000.1:p.Arg270Leu
• NP_001284704.1:p.Thr255=
• NC_000011.9:g.28351973G>T
• NM_001113528.1:c.809G>T

This HGVS expression did not pass validation

Protein change:

R270L

Molecular consequence:

• NM_152636.3:c.*58G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001113528.2:c.809G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297775.2:c.765G>T - synonymous variant - [Sequence Ontology: SO:0001819]