ClinVar

NM_032230.3(METTL25):c.181G>T (p.Ala61Ser)

Genes:

CCDC59:coiled-coil domain containing 59 [Gene - OMIM - HGNC]
METTL25:methyltransferase like 25 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.31

Genomic location:

• Chr12: 82358746 (on Assembly GRCh38)
• Chr12: 82752525 (on Assembly GRCh37)

Preferred name:

NM_032230.3(METTL25):c.181G>T (p.Ala61Ser)

HGVS:

• NC_000012.12:g.82358746G>T
• NG_053173.2:g.5341G>T
• NG_126171.1:g.651G>T
• NG_126171.2:g.651G>T
• NG_126172.1:g.90G>T
• NM_001319675.2:c.-173G>T
• NM_001347934.2:c.-150G>T
• NM_032230.3:c.181G>TMANE SELECT
• NP_115606.2:p.Ala61Ser
• NC_000012.11:g.82752525G>T
• NM_032230.2:c.181G>T
• NR_033192.1:n.60C>A
• NR_144940.2:n.218G>T
• NR_144941.2:n.218G>T
• NR_144942.2:n.218G>T
• NR_144943.2:n.218G>T

This HGVS expression did not pass validation

Protein change:

A61S

Molecular consequence:

• NM_001319675.2:c.-173G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001347934.2:c.-150G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_032230.3:c.181G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_033192.1:n.60C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144940.2:n.218G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144941.2:n.218G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144942.2:n.218G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144943.2:n.218G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]