ClinVar

NM_022552.5(DNMT3A):c.1854C>T (p.Asp618=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25243980 (on Assembly GRCh38)
• Chr2: 25466849 (on Assembly GRCh37)

Preferred name:

NM_022552.5(DNMT3A):c.1854C>T (p.Asp618=)

HGVS:

• NC_000002.12:g.25243980G>A
• NG_029465.2:g.103611C>T
• NM_001320893.1:c.1398C>T
• NM_001375819.1:c.1185C>T
• NM_022552.5:c.1854C>TMANE SELECT
• NM_153759.3:c.1287C>T
• NM_175629.2:c.1854C>T
• NP_001307822.1:p.Asp466=
• NP_001362748.1:p.Asp395=
• NP_072046.2:p.Asp618=
• NP_072046.2:p.Asp618=
• NP_715640.2:p.Asp429=
• NP_783328.1:p.Asp618=
• LRG_459t1:c.1854C>T
• LRG_459t2:c.1287C>T
• LRG_459t4:c.1854C>T
• LRG_459:g.103611C>T
• LRG_459p1:p.Asp618=
• LRG_459p2:p.Asp429=
• LRG_459p4:p.Asp618=
• NC_000002.11:g.25466849G>A
• NM_022552.4:c.1854C>T
• NR_135490.2:n.2085C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_135490.2:n.2085C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001320893.1:c.1398C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375819.1:c.1185C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022552.5:c.1854C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_153759.3:c.1287C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175629.2:c.1854C>T - synonymous variant - [Sequence Ontology: SO:0001819]