ClinVar

NM_006892.4(DNMT3B):c.1992G>A (p.Leu664=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 32800921 (on Assembly GRCh38)
• Chr20: 31388727 (on Assembly GRCh37)

Preferred name:

NM_006892.4(DNMT3B):c.1992G>A (p.Leu664=)

HGVS:

• NC_000020.11:g.32800921G>A
• NG_007290.1:g.43537G>A
• NG_142800.1:g.483G>A
• NM_001207055.2:c.1806G>A
• NM_001207056.2:c.1704G>A
• NM_006892.4:c.1992G>AMANE SELECT
• NM_175848.2:c.1932G>A
• NM_175849.2:c.1932G>A
• NM_175850.3:c.1968G>A
• NP_001193984.1:p.Leu602=
• NP_001193985.1:p.Leu568=
• NP_008823.1:p.Leu664=
• NP_008823.1:p.Leu664=
• NP_787044.1:p.Leu644=
• NP_787045.1:p.Leu644=
• NP_787046.1:p.Leu656=
• LRG_56t1:c.1992G>A
• LRG_56:g.43537G>A
• LRG_56p1:p.Leu664=
• NC_000020.10:g.31388727G>A
• NM_006892.3:c.1992G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001207055.2:c.1806G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001207056.2:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006892.4:c.1992G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175848.2:c.1932G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175849.2:c.1932G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175850.3:c.1968G>A - synonymous variant - [Sequence Ontology: SO:0001819]