ClinVar

NM_001393500.2(TOMT):c.89C>T (p.Thr30Met)

Genes:

LRTOMT:leucine rich transmembrane and O-methyltransferase domain containing [Gene - OMIM - HGNC]
TOMT:transmembrane O-methyltransferase [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 72106040 (on Assembly GRCh38)
• Chr11: 71817086 (on Assembly GRCh37)

Preferred name:

NM_001393500.2(TOMT):c.89C>T (p.Thr30Met)

HGVS:

• NC_000011.10:g.72106040C>T
• NG_021423.1:g.30705C>T
• NM_001145308.5:c.188C>T
• NM_001145309.4:c.188C>T
• NM_001145310.4:c.84-16C>T
• NM_001393500.2:c.89C>TMANE SELECT
• NP_001138780.1:p.Thr63Met
• NP_001138780.1:p.Thr63Met
• NP_001138781.1:p.Thr63Met
• NP_001380429.1:p.Thr30Met
• NC_000011.9:g.71817086C>T
• NM_001145308.1:c.188C>T
• NM_001145308.4:c.188C>T

This HGVS expression did not pass validation

Protein change:

T30M

Links:

dbSNP: rs876657502

NCBI 1000 Genomes Browser:

rs876657502

Molecular consequence:

• NM_001145310.4:c.84-16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001145308.5:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145309.4:c.188C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393500.2:c.89C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1