ClinVar

NM_001276270.2(MBD4):c.1555A>C (p.Thr519Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 129432595 (on Assembly GRCh38)
• Chr3: 129151438 (on Assembly GRCh37)

Preferred name:

NM_001276270.2(MBD4):c.1555A>C (p.Thr519Pro)

HGVS:

• NC_000003.12:g.129432595T>G
• NG_033106.1:g.12585A>C
• NM_001276270.2:c.1555A>CMANE SELECT
• NM_001276271.2:c.1573A>C
• NM_001276272.2:c.1573A>C
• NM_001276273.2:c.619A>C
• NM_003925.3:c.1573A>C
• NP_001263199.1:p.Thr519Pro
• NP_001263200.1:p.Thr525Pro
• NP_001263201.1:p.Thr525Pro
• NP_001263202.1:p.Thr207Pro
• NP_003916.1:p.Thr525Pro
• NC_000003.11:g.129151438T>G
• NM_003925.1:c.1573A>C

This HGVS expression did not pass validation

Protein change:

T207P

Links:

dbSNP: rs2072370617

NCBI 1000 Genomes Browser:

rs2072370617

Molecular consequence:

• NM_001276270.2:c.1555A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276271.2:c.1573A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276272.2:c.1573A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001276273.2:c.619A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003925.3:c.1573A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1