ClinVar

NM_175629.2(DNMT3A):c.892G>T (p.Gly298Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25247713 (on Assembly GRCh38)
• Chr2: 25470582 (on Assembly GRCh37)

Preferred name:

NM_175629.2(DNMT3A):c.892G>T (p.Gly298Trp)

HGVS:

• NC_000002.12:g.25247713C>A
• NG_029465.2:g.99878G>T
• NM_022552.4:c.892G>T
• NM_153759.3:c.325G>T
• NM_175629.2:c.892G>T
• NP_072046.2:p.Gly298Trp
• NP_715640.2:p.Gly109Trp
• NP_783328.1:p.Gly298Trp
• LRG_459t1:c.892G>T
• LRG_459t2:c.325G>T
• LRG_459t4:c.892G>T
• LRG_459:g.99878G>T
• LRG_459p1:p.Gly298Trp
• LRG_459p2:p.Gly109Trp
• LRG_459p4:p.Gly298Trp
• NC_000002.11:g.25470582C>A
• NM_175629.1:c.892G>T
• NR_135490.1:n.1230G>T

This HGVS expression did not pass validation

Protein change:

G109W

Links:

dbSNP: rs797044904

NCBI 1000 Genomes Browser:

rs797044904

Molecular consequence:

• NM_175629.2:c.892G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_135490.1:n.1230G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1