ClinVar

NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)

Gene:

MAPK8IP3:mitogen-activated protein kinase 8 interacting protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 1762843 (on Assembly GRCh38)
• Chr16: 1812844 (on Assembly GRCh37)

Preferred name:

NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)

HGVS:

• NC_000016.10:g.1762843C>T
• NM_001040439.2:c.1714C>T
• NM_001318852.2:c.1735C>TMANE SELECT
• NM_015133.3:c.1732C>T
• NM_015133.5:c.1732C>T
• NM_015133.5:c.1732C>T
• NP_001035529.1:p.Arg572Cys
• NP_001305781.1:p.Arg579Cys
• NP_055948.2:p.Arg578Cys
• NC_000016.9:g.1812844C>T
• NM_001040439.1:c.1714C>T
• NM_001318852.1:c.1735C>T
• NM_015133.4:c.1732C>T
• p.Arg578Cys

This HGVS expression did not pass validation

Protein change:

R572C; ARG578CYS

Links:

OMIM: 605431.0004; dbSNP: rs1567203083

NCBI 1000 Genomes Browser:

rs1567203083

Molecular consequence:

• NM_001040439.2:c.1714C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318852.2:c.1735C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015133.5:c.1732C>T - missense variant - [Sequence Ontology: SO:0001583]