ClinVar

NM_032230.3(METTL25):c.208G>A (p.Glu70Lys)

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: 82358773 (on Assembly GRCh38)
• Chr12: 82752552 (on Assembly GRCh37)

Preferred name:

NM_032230.3(METTL25):c.208G>A (p.Glu70Lys)

HGVS:

• NC_000012.12:g.82358773G>A
• NG_053173.1:g.5368G>A
• NG_053173.2:g.5368G>A
• NM_001319675.2:c.-146G>A
• NM_001347934.2:c.-123G>A
• NM_032230.3:c.208G>AMANE SELECT
• NP_115606.2:p.Glu70Lys
• NC_000012.11:g.82752552G>A
• NM_032230.2:c.208G>A
• NR_033192.1:n.33C>T
• NR_144940.2:n.245G>A
• NR_144941.2:n.245G>A
• NR_144942.2:n.245G>A
• NR_144943.2:n.245G>A

This HGVS expression did not pass validation

Protein change:

E70K

Links:

dbSNP: rs386352284

NCBI 1000 Genomes Browser:

rs386352284

Molecular consequence:

• NM_001319675.2:c.-146G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001347934.2:c.-123G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_032230.3:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_033192.1:n.33C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144940.2:n.245G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144941.2:n.245G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144942.2:n.245G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_144943.2:n.245G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]