ClinVar

NM_018474.6(KIZ):c.257G>T (p.Arg86Leu)

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: 21136494 (on Assembly GRCh38)
• Chr20: 21117135 (on Assembly GRCh37)

Preferred name:

NM_018474.6(KIZ):c.257G>T (p.Arg86Leu)

HGVS:

• NC_000020.11:g.21136494G>T
• NG_033122.2:g.15515G>T
• NM_001163022.3:c.6+4335G>T
• NM_001163023.3:c.6+4335G>T
• NM_001276389.2:c.169-9071G>T
• NM_001352434.2:c.257G>T
• NM_001352435.2:c.6+4335G>T
• NM_001352436.2:c.-130G>T
• NM_018474.6:c.257G>TMANE SELECT
• NP_001339363.1:p.Arg86Leu
• NP_060944.3:p.Arg86Leu
• NC_000020.10:g.21117135G>T
• NM_018474.4:c.257G>T

This HGVS expression did not pass validation

Protein change:

R86L

Links:

dbSNP: rs373803095

NCBI 1000 Genomes Browser:

rs373803095

Molecular consequence:

• NM_001352436.2:c.-130G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001163022.3:c.6+4335G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163023.3:c.6+4335G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001276389.2:c.169-9071G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352435.2:c.6+4335G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352434.2:c.257G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018474.6:c.257G>T - missense variant - [Sequence Ontology: SO:0001583]