ClinVar

NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys)

Gene:

DNMT3A:DNA methyltransferase 3 alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25244263 (on Assembly GRCh38)
• Chr2: 25467132 (on Assembly GRCh37)

Preferred name:

NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys)

HGVS:

• NC_000002.12:g.25244263C>A
• NG_029465.2:g.103328G>T
• NM_001320893.1:c.1287G>T
• NM_001375819.1:c.1074G>T
• NM_022552.5:c.1743G>TMANE SELECT
• NM_153759.3:c.1176G>T
• NM_175629.2:c.1743G>T
• NP_001307822.1:p.Trp429Cys
• NP_001362748.1:p.Trp358Cys
• NP_072046.2:p.Trp581Cys
• NP_715640.2:p.Trp392Cys
• NP_783328.1:p.Trp581Cys
• LRG_459t2:c.1176G>T
• LRG_459t4:c.1743G>T
• LRG_459:g.103328G>T
• LRG_459p2:p.Trp392Cys
• LRG_459p4:p.Trp581Cys
• NC_000002.11:g.25467132C>A
• NR_135490.2:n.1974G>T

This HGVS expression did not pass validation

Protein change:

W358C

Links:

dbSNP: rs769419803

NCBI 1000 Genomes Browser:

rs769419803

Molecular consequence:

• NM_001320893.1:c.1287G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375819.1:c.1074G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022552.5:c.1743G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153759.3:c.1176G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_175629.2:c.1743G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_135490.2:n.1974G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]