ClinVar

NM_005677.4(COLQ):c.1346C>T (p.Thr449Met)

Gene:

COLQ:collagen like tail subunit of asymmetric acetylcholinesterase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

• Chr3: 15451666 (on Assembly GRCh38)
• Chr3: 15493173 (on Assembly GRCh37)

Preferred name:

NM_005677.4(COLQ):c.1346C>T (p.Thr449Met)

HGVS:

• NC_000003.12:g.15451666G>A
• NG_009032.2:g.75086C>T
• NM_005677.4:c.1346C>TMANE SELECT
• NM_080538.2:c.1316C>T
• NM_080539.4:c.1244C>T
• NP_005668.2:p.Thr449Met
• NP_536799.1:p.Thr439Met
• NP_536800.2:p.Thr415Met
• NC_000003.11:g.15493173G>A

This HGVS expression did not pass validation

Protein change:

T415M

Links:

dbSNP: rs1015425548

NCBI 1000 Genomes Browser:

rs1015425548

Molecular consequence:

• NM_005677.4:c.1346C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080538.2:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080539.4:c.1244C>T - missense variant - [Sequence Ontology: SO:0001583]