ClinVar

NM_170784.3(MKKS):c.1184A>G (p.His395Arg)

Gene:

MKKS:MKKS centrosomal shuttling protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.2

Genomic location:

• Chr20: 10407704 (on Assembly GRCh38)
• Chr20: 10388352 (on Assembly GRCh37)

Preferred name:

NM_170784.3(MKKS):c.1184A>G (p.His395Arg)

HGVS:

• NC_000020.11:g.10407704T>C
• NG_009109.2:g.31515A>G
• NG_009109.3:g.31518A>G
• NM_018848.3:c.1184A>G
• NM_170784.3:c.1184A>GMANE SELECT
• NP_061336.1:p.His395Arg
• NP_740754.1:p.His395Arg
• NC_000020.10:g.10388352T>C
• NR_072977.2:n.545A>G

This HGVS expression did not pass validation

Protein change:

H395R

Molecular consequence:

• NM_018848.3:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_170784.3:c.1184A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_072977.2:n.545A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]