ClinVar

NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25234373 (on Assembly GRCh38)
• Chr2: 25457242 (on Assembly GRCh37)

Preferred name:

NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro)

HGVS:

• NC_000002.12:g.25234373C>G
• NG_029465.2:g.113218G>C
• NM_001320893.1:c.2189G>C
• NM_001375819.1:c.1976G>C
• NM_022552.5:c.2645G>CMANE SELECT
• NM_153759.3:c.2078G>C
• NM_175629.2:c.2645G>C
• NP_001307822.1:p.Arg730Pro
• NP_001362748.1:p.Arg659Pro
• NP_072046.2:p.Arg882Pro
• NP_715640.2:p.Arg693Pro
• NP_783328.1:p.Arg882Pro
• LRG_459t2:c.2078G>C
• LRG_459t4:c.2645G>C
• LRG_459:g.113218G>C
• LRG_459p2:p.Arg693Pro
• LRG_459p4:p.Arg882Pro
• NC_000002.11:g.25457242C>G
• NR_135490.2:n.3075G>C

This HGVS expression did not pass validation

Protein change:

R659P

Links:

dbSNP: rs147001633

NCBI 1000 Genomes Browser:

rs147001633

Molecular consequence:

• NM_001320893.1:c.2189G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375819.1:c.1976G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022552.5:c.2645G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_153759.3:c.2078G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_175629.2:c.2645G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_135490.2:n.3075G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]