ClinVar

NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 25234308 (on Assembly GRCh38)
• Chr2: 25457177 (on Assembly GRCh37)

Preferred name:

NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)

HGVS:

• NC_000002.12:g.25234308G>A
• NG_029465.2:g.113283C>T
• NM_001320893.1:c.2254C>T
• NM_001375819.1:c.2041C>T
• NM_022552.5:c.2710C>TMANE SELECT
• NM_153759.3:c.2143C>T
• NM_175629.2:c.2710C>T
• NP_001307822.1:p.Pro752Ser
• NP_001362748.1:p.Pro681Ser
• NP_072046.2:p.Pro904Ser
• NP_715640.2:p.Pro715Ser
• NP_783328.1:p.Pro904Ser
• LRG_459t2:c.2143C>T
• LRG_459t4:c.2710C>T
• LRG_459:g.113283C>T
• LRG_459p2:p.Pro715Ser
• LRG_459p4:p.Pro904Ser
• NC_000002.11:g.25457177G>A
• NR_135490.2:n.3140C>T
• p.P904S

This HGVS expression did not pass validation

Protein change:

P681S

Links:

dbSNP: rs1558650888

NCBI 1000 Genomes Browser:

rs1558650888

Molecular consequence:

• NM_001320893.1:c.2254C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375819.1:c.2041C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022552.5:c.2710C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153759.3:c.2143C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_175629.2:c.2710C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_135490.2:n.3140C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

Decreased function

Observations:

1