ClinVar

NM_001365951.3(KIF1B):c.*2032T>A

Gene:

KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 10378619 (on Assembly GRCh38)
• Chr1: 10438677 (on Assembly GRCh37)

Preferred name:

NM_001365951.3(KIF1B):c.*2032T>A

HGVS:

• NC_000001.11:g.10378619T>A
• NG_008069.1:g.172914T>A
• NM_001365951.3:c.*2032T>AMANE SELECT
• NM_001365952.1:c.*2032T>A
• NM_015074.3:c.*2032T>A
• LRG_252t1:c.*2032T>A
• LRG_252t2:c.*2032T>A
• LRG_252:g.172914T>A
• NC_000001.10:g.10438677T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs190108168

NCBI 1000 Genomes Browser:

rs190108168

Molecular consequence:

• NM_001365951.3:c.*2032T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001365952.1:c.*2032T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_015074.3:c.*2032T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]