ClinVar

NM_001378120.1(MBD5):c.24C>T (p.Asp8=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q23.1

Genomic location:

• Chr2: 148458782 (on Assembly GRCh38)
• Chr2: 149216351 (on Assembly GRCh37)

Preferred name:

NM_001378120.1(MBD5):c.24C>T (p.Asp8=)

HGVS:

• NC_000002.12:g.148458782C>T
• NG_017003.2:g.442772C>T
• NM_001378120.1:c.24C>TMANE SELECT
• NM_018328.5:c.24C>T
• NP_001365049.1:p.Asp8=
• NP_060798.2:p.Asp8=
• NC_000002.11:g.149216351C>T
• NM_018328.4:c.24C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs751181406

NCBI 1000 Genomes Browser:

rs751181406

Molecular consequence:

• NM_001378120.1:c.24C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018328.5:c.24C>T - synonymous variant - [Sequence Ontology: SO:0001819]