ClinVar

NM_006892.4(DNMT3B):c.-6-176C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 32780142 (on Assembly GRCh38)
• Chr20: 31367948 (on Assembly GRCh37)

Preferred name:

NM_006892.4(DNMT3B):c.-6-176C>T

HGVS:

• NC_000020.11:g.32780142C>T
• NG_007290.1:g.22758C>T
• NM_001207055.2:c.-6-176C>T
• NM_001207056.2:c.-6-176C>T
• NM_006892.4:c.-6-176C>TMANE SELECT
• NM_175848.2:c.-6-176C>T
• NM_175849.2:c.-6-176C>T
• NM_175850.3:c.27C>T
• NP_787046.1:p.Ser9=
• NP_787046.1:p.Ser9=
• LRG_56:g.22758C>T
• NC_000020.10:g.31367948C>T
• NM_175850.2:c.27C>T
• p.Ser9Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs6058885

NCBI 1000 Genomes Browser:

rs6058885

Molecular consequence:

• NM_001207055.2:c.-6-176C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001207056.2:c.-6-176C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006892.4:c.-6-176C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_175848.2:c.-6-176C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_175849.2:c.-6-176C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_175850.3:c.27C>T - synonymous variant - [Sequence Ontology: SO:0001819]