ClinVar

NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 32795432 (on Assembly GRCh38)
• Chr20: 31383238 (on Assembly GRCh37)

Preferred name:

NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr)

HGVS:

• NC_000020.11:g.32795432G>A
• NG_007290.1:g.38048G>A
• NM_001207055.2:c.964G>A
• NM_001207056.2:c.862G>A
• NM_006892.4:c.1150G>AMANE SELECT
• NM_175848.2:c.1090G>A
• NM_175849.2:c.1090G>A
• NM_175850.3:c.1126G>A
• NP_001193984.1:p.Ala322Thr
• NP_001193985.1:p.Ala288Thr
• NP_008823.1:p.Ala384Thr
• NP_787044.1:p.Ala364Thr
• NP_787045.1:p.Ala364Thr
• NP_787046.1:p.Ala376Thr
• LRG_56t1:c.1150G>A
• LRG_56:g.38048G>A
• NC_000020.10:g.31383238G>A
• NM_006892.3:c.1150G>A

This HGVS expression did not pass validation

Protein change:

A288T

Links:

dbSNP: rs150682895

NCBI 1000 Genomes Browser:

rs150682895

Molecular consequence:

• NM_001207055.2:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001207056.2:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006892.4:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_175848.2:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_175849.2:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_175850.3:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]