ClinVar

NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 32801423 (on Assembly GRCh38)
• Chr20: 31389229 (on Assembly GRCh37)

Preferred name:

NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)

HGVS:

• NC_000020.11:g.32801423G>A
• NG_007290.1:g.44039G>A
• NM_001207055.2:c.1956G>A
• NM_001207056.2:c.1854G>A
• NM_006892.4:c.2142G>AMANE SELECT
• NM_175848.2:c.2082G>A
• NM_175849.2:c.2082G>A
• NM_175850.3:c.2118G>A
• NP_001193984.1:p.Leu652=
• NP_001193985.1:p.Leu618=
• NP_008823.1:p.Leu714=
• NP_787044.1:p.Leu694=
• NP_787045.1:p.Leu694=
• NP_787046.1:p.Leu706=
• LRG_56t1:c.2142G>A
• LRG_56:g.44039G>A
• NC_000020.10:g.31389229G>A
• NM_006892.3:c.2142G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs143847495

NCBI 1000 Genomes Browser:

rs143847495

Molecular consequence:

• NM_001207055.2:c.1956G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001207056.2:c.1854G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006892.4:c.2142G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175848.2:c.2082G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175849.2:c.2082G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_175850.3:c.2118G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2