ClinVar

NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)

Gene:

KIAA0586:KIAA0586 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q23.1

Genomic location:

• Chr14: 58432439 (on Assembly GRCh38)
• Chr14: 58899157 (on Assembly GRCh37)

Preferred name:

NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)

Other names:

NM_001329943.3(KIAA0586):c.392del; p.Arg131fs

HGVS:

• NC_000014.9:g.58432439del
• NG_051335.2:g.10055del
• NM_001244189.2:c.428del
• NM_001244190.2:c.347del
• NM_001244191.2:c.137del
• NM_001244192.2:c.137del
• NM_001329943.3:c.392delMANE SELECT
• NM_001329944.2:c.392del
• NM_001329945.2:c.137del
• NM_001329946.2:c.392del
• NM_001329947.2:c.392del
• NM_001364700.1:c.137del
• NM_001364701.2:c.137del
• NM_014749.5:c.392del
• NP_001231118.1:p.Arg143fs
• NP_001231119.1:p.Arg116fs
• NP_001231120.1:p.Arg46fs
• NP_001231121.1:p.Arg46fs
• NP_001316872.1:p.Arg131fs
• NP_001316873.1:p.Arg131fs
• NP_001316874.1:p.Arg46fs
• NP_001316875.1:p.Arg131fs
• NP_001316876.1:p.Arg131fs
• NP_001351629.1:p.Arg46fs
• NP_001351630.1:p.Arg46fs
• NP_055564.3:p.Arg131fs
• LRG_1096t1:c.428del
• LRG_1096t2:c.392del
• LRG_1096t3:c.392del
• LRG_1096:g.10055del
• LRG_1096p1:p.Arg143fs
• LRG_1096p2:p.Arg131fs
• LRG_1096p3:p.Arg131fs
• NC_000014.8:g.58899157del
• NC_000014.8:g.58899157delG
• NM_001244189.1:c.428del
• NM_001244189.1:c.428delG
• NM_001244190.1:c.347delG
• NM_001329943.2:c.392del
• NM_001329943.3:c.392del
• NM_001329943.3:c.392delGMANE SELECT
• NM_014749.3:c.392del
• NM_014749.3:c.392delG
• p.Arg143LysfsX4

This HGVS expression did not pass validation

Protein change:

R116fs

Links:

OMIM: 610178.0001; dbSNP: rs534542684

NCBI 1000 Genomes Browser:

rs534542684

Molecular consequence:

• NM_001244189.2:c.428del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001244190.2:c.347del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001244191.2:c.137del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001244192.2:c.137del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001329943.3:c.392del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001329944.2:c.392del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001329945.2:c.137del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001329946.2:c.392del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001329947.2:c.392del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001364700.1:c.137del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001364701.2:c.137del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_014749.5:c.392del - frameshift variant - [Sequence Ontology: SO:0001589]