ClinVar

NM_006892.4(DNMT3B):c.189G>T (p.Leu63=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 32781399 (on Assembly GRCh38)
• Chr20: 31369205 (on Assembly GRCh37)

Preferred name:

NM_006892.4(DNMT3B):c.189G>T (p.Leu63=)

HGVS:

• NC_000020.11:g.32781399G>T
• NG_007290.1:g.24015G>T
• NG_142795.1:g.433G>T
• NM_001207055.2:c.189G>T
• NM_001207056.2:c.189G>T
• NM_006892.4:c.189G>TMANE SELECT
• NM_175848.2:c.189G>T
• NM_175849.2:c.189G>T
• NM_175850.3:c.225G>T
• NP_001193984.1:p.Leu63=
• NP_001193985.1:p.Leu63=
• NP_008823.1:p.Leu63=
• NP_008823.1:p.Leu63=
• NP_787044.1:p.Leu63=
• NP_787045.1:p.Leu63=
• NP_787046.1:p.Leu75=
• LRG_56t1:c.189G>T
• LRG_56:g.24015G>T
• LRG_56p1:p.Leu63=
• NC_000020.10:g.31369205G>T
• NM_006892.3:c.189G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001207055.2:c.189G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001207056.2:c.189G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006892.4:c.189G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175848.2:c.189G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175849.2:c.189G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175850.3:c.225G>T - synonymous variant - [Sequence Ontology: SO:0001819]