ClinVar

NM_001276270.2(MBD4):c.570G>A (p.Met190Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 129437074 (on Assembly GRCh38)
• Chr3: 129155917 (on Assembly GRCh37)

Preferred name:

NM_001276270.2(MBD4):c.570G>A (p.Met190Ile)

HGVS:

• NC_000003.12:g.129437074C>T
• NG_023392.1:g.1950C>T
• NG_033106.1:g.8106G>A
• NM_001276270.2:c.570G>AMANE SELECT
• NM_001276271.2:c.570G>A
• NM_001276272.2:c.570G>A
• NM_001276273.2:c.247+734G>A
• NM_003925.3:c.570G>A
• NP_001263199.1:p.Met190Ile
• NP_001263200.1:p.Met190Ile
• NP_001263201.1:p.Met190Ile
• NP_003916.1:p.Met190Ile
• NC_000003.11:g.129155917C>T

This HGVS expression did not pass validation

Protein change:

M190I

Molecular consequence:

• NM_001276273.2:c.247+734G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276270.2:c.570G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276271.2:c.570G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276272.2:c.570G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003925.3:c.570G>A - missense variant - [Sequence Ontology: SO:0001583]