ClinVar

NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)

Gene:

MBD5:methyl-CpG binding domain protein 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q23.1

Genomic location:

• Chr2: 148502443 (on Assembly GRCh38)
• Chr2: 149260012 (on Assembly GRCh37)

Preferred name:

NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)

Other names:

p.Pro1424His

HGVS:

• NC_000002.12:g.148502443C>A
• NG_017003.2:g.486433C>A
• NM_001378120.1:c.4970C>AMANE SELECT
• NM_018328.5:c.4271C>A
• NP_001365049.1:p.Pro1657His
• NP_060798.2:p.Pro1424His
• NP_060798.2:p.Pro1424His
• NC_000002.11:g.149260012C>A
• NM_018328.4:c.4271C>A

This HGVS expression did not pass validation

Protein change:

P1424H

Links:

dbSNP: rs775673512

NCBI 1000 Genomes Browser:

rs775673512

Molecular consequence:

• NM_001378120.1:c.4970C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018328.5:c.4271C>A - missense variant - [Sequence Ontology: SO:0001583]