ClinVar

NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)

Gene:

DNMT3B:DNA methyltransferase 3 beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 32807793 (on Assembly GRCh38)
• Chr20: 31395599 (on Assembly GRCh37)

Preferred name:

NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)

HGVS:

• NC_000020.11:g.32807793G>A
• NG_007290.1:g.50409G>A
• NM_001207055.2:c.2077G>A
• NM_001207056.2:c.1975G>A
• NM_006892.4:c.2452G>AMANE SELECT
• NM_175848.2:c.2392G>A
• NM_175849.2:c.2203G>A
• NM_175850.3:c.2428G>A
• NP_001193984.1:p.Val693Met
• NP_001193985.1:p.Val659Met
• NP_008823.1:p.Val818Met
• NP_787044.1:p.Val798Met
• NP_787045.1:p.Val735Met
• NP_787046.1:p.Val810Met
• LRG_56t1:c.2452G>A
• LRG_56:g.50409G>A
• NC_000020.10:g.31395599G>A
• NM_006892.3:c.2452G>A
• Q9UBC3:p.Val818Met

This HGVS expression did not pass validation

Protein change:

V659M; VAL810MET

Links:

UniProtKB: Q9UBC3#VAR_011504; OMIM: 602900.0002; dbSNP: rs121908940

NCBI 1000 Genomes Browser:

rs121908940

Molecular consequence:

• NM_001207055.2:c.2077G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001207056.2:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006892.4:c.2452G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_175848.2:c.2392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_175849.2:c.2203G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_175850.3:c.2428G>A - missense variant - [Sequence Ontology: SO:0001583]