ClinVar

NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.2

Genomic location:

• Chr20: 10412685 (on Assembly GRCh38)
• Chr20: 10393333 (on Assembly GRCh37)

Preferred name:

NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)

HGVS:

• NC_000020.11:g.10412685A>G
• NG_009109.2:g.26534T>C
• NM_018848.3:c.830T>C
• NM_170784.3:c.830T>CMANE SELECT
• NP_061336.1:p.Leu277Pro
• NP_740754.1:p.Leu277Pro
• NC_000020.10:g.10393333A>G
• NM_018848.2:c.830T>C
• NM_170784.3:c.830T>C
• Q9NPJ1:p.Leu277Pro

This HGVS expression did not pass validation

Protein change:

L277P; LEU277PRO

Links:

UniProtKB: Q9NPJ1#VAR_009884; OMIM: 604896.0008; dbSNP: rs74315398

NCBI 1000 Genomes Browser:

rs74315398

Molecular consequence:

• NM_018848.3:c.830T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_170784.3:c.830T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1