ClinVar

NM_001318852.2(MAPK8IP3):c.3653G>A (p.Ser1218Asn)

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: 1768289 (on Assembly GRCh38)
• Chr16: 1818290 (on Assembly GRCh37)

Preferred name:

NM_001318852.2(MAPK8IP3):c.3653G>A (p.Ser1218Asn)

Other names:

Chr16:1768289G>A (hg38)

HGVS:

• NC_000016.10:g.1768289G>A
• NM_001040439.2:c.3632G>A
• NM_001318852.2:c.3653G>AMANE SELECT
• NM_015133.5:c.3650G>A
• NP_001035529.1:p.Ser1211Asn
• NP_001305781.1:p.Ser1218Asn
• NP_055948.2:p.Ser1217Asn
• NC_000016.9:g.1818290G>A
• NM_001318852.1:c.3653G>A

This HGVS expression did not pass validation

Protein change:

S1211N

Links:

dbSNP: rs1478237675

NCBI 1000 Genomes Browser:

rs1478237675

Molecular consequence:

• NM_001040439.2:c.3632G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318852.2:c.3653G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015133.5:c.3650G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Unknown function

Observations:

1