ClinVar

NM_006892.4(DNMT3B):c.2466C>T (p.Gly822=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 32807807 (on Assembly GRCh38)
• Chr20: 31395613 (on Assembly GRCh37)

Preferred name:

NM_006892.4(DNMT3B):c.2466C>T (p.Gly822=)

HGVS:

• NC_000020.11:g.32807807C>T
• NG_007290.1:g.50423C>T
• NG_142803.1:g.991C>T
• NG_142804.1:g.191C>T
• NM_001207055.2:c.2091C>T
• NM_001207056.2:c.1989C>T
• NM_006892.4:c.2466C>TMANE SELECT
• NM_175848.2:c.2406C>T
• NM_175849.2:c.2217C>T
• NM_175850.3:c.2442C>T
• NP_001193984.1:p.Gly697=
• NP_001193985.1:p.Gly663=
• NP_008823.1:p.Gly822=
• NP_008823.1:p.Gly822=
• NP_787044.1:p.Gly802=
• NP_787045.1:p.Gly739=
• NP_787046.1:p.Gly814=
• LRG_56t1:c.2466C>T
• LRG_56:g.50423C>T
• LRG_56p1:p.Gly822=
• NC_000020.10:g.31395613C>T
• NM_006892.3:c.2466C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001207055.2:c.2091C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001207056.2:c.1989C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006892.4:c.2466C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175848.2:c.2406C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175849.2:c.2217C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175850.3:c.2442C>T - synonymous variant - [Sequence Ontology: SO:0001819]