ClinVar

NM_001252102.2(KIF21B):c.3998G>A (p.Trp1333Ter)

Genes:

LOC129932203:ATAC-STARR-seq lymphoblastoid active region 2305 [Gene]
KIF21B:kinesin family member 21B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 200979697 (on Assembly GRCh38)
• Chr1: 200948825 (on Assembly GRCh37)

Preferred name:

NM_001252102.2(KIF21B):c.3998G>A (p.Trp1333Ter)

HGVS:

• NC_000001.11:g.200979697C>T
• NG_047130.1:g.49004G>A
• NM_001252100.2:c.3998G>A
• NM_001252102.2:c.3998G>AMANE SELECT
• NM_001252103.2:c.3959G>A
• NM_017596.4:c.3959G>A
• NP_001239029.1:p.Trp1333Ter
• NP_001239031.1:p.Trp1333Ter
• NP_001239032.1:p.Trp1320Ter
• NP_060066.2:p.Trp1320Ter
• NC_000001.10:g.200948825C>T
• NM_017596.3:c.3959G>A

This HGVS expression did not pass validation

Protein change:

W1320*

Molecular consequence:

• NM_001252100.2:c.3998G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001252102.2:c.3998G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001252103.2:c.3959G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_017596.4:c.3959G>A - nonsense - [Sequence Ontology: SO:0001587]