ClinVar

NM_018474.6(KIZ):c.253G>C (p.Glu85Gln)

Genes:

LOC130065509:ATAC-STARR-seq lymphoblastoid active region 17619 [Gene]
KIZ:kizuna centrosomal protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p11.23

Genomic location:

• Chr20: 21136490 (on Assembly GRCh38)
• Chr20: 21117131 (on Assembly GRCh37)

Preferred name:

NM_018474.6(KIZ):c.253G>C (p.Glu85Gln)

HGVS:

• NC_000020.11:g.21136490G>C
• NG_033122.2:g.15511G>C
• NM_001163022.3:c.6+4331G>C
• NM_001163023.3:c.6+4331G>C
• NM_001276389.2:c.169-9075G>C
• NM_001352434.2:c.253G>C
• NM_001352435.2:c.6+4331G>C
• NM_001352436.2:c.-134G>C
• NM_018474.6:c.253G>CMANE SELECT
• NP_001339363.1:p.Glu85Gln
• NP_060944.3:p.Glu85Gln
• NC_000020.10:g.21117131G>C

This HGVS expression did not pass validation

Protein change:

E85Q

Links:

dbSNP: rs2122373298

NCBI 1000 Genomes Browser:

rs2122373298

Molecular consequence:

• NM_001352436.2:c.-134G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001163022.3:c.6+4331G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163023.3:c.6+4331G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276389.2:c.169-9075G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352435.2:c.6+4331G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352434.2:c.253G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018474.6:c.253G>C - missense variant - [Sequence Ontology: SO:0001583]