ClinVar

NM_001276270.2(MBD4):c.549G>A (p.Lys183=)

Gene:

MBD4:methyl-CpG binding domain 4, DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 129437095 (on Assembly GRCh38)
• Chr3: 129155938 (on Assembly GRCh37)

Preferred name:

NM_001276270.2(MBD4):c.549G>A (p.Lys183=)

HGVS:

• NC_000003.12:g.129437095C>T
• NG_023392.1:g.1971C>T
• NG_033106.1:g.8085G>A
• NM_001276270.2:c.549G>AMANE SELECT
• NM_001276271.2:c.549G>A
• NM_001276272.2:c.549G>A
• NM_001276273.2:c.247+713G>A
• NM_003925.3:c.549G>A
• NP_001263199.1:p.Lys183=
• NP_001263200.1:p.Lys183=
• NP_001263201.1:p.Lys183=
• NP_003916.1:p.Lys183=
• NC_000003.11:g.129155938C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001276273.2:c.247+713G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276270.2:c.549G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276271.2:c.549G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001276272.2:c.549G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003925.3:c.549G>A - synonymous variant - [Sequence Ontology: SO:0001819]