ClinVar

NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 10337518 (on Assembly GRCh38)
• Chr1: 10397576 (on Assembly GRCh37)

Preferred name:

NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)

HGVS:

• NC_000001.11:g.10337518T>C
• NG_008069.1:g.131813T>C
• NM_001365951.3:c.3407T>CMANE SELECT
• NM_001365952.1:c.3407T>C
• NM_015074.3:c.3269T>C
• NP_001352880.1:p.Ile1136Thr
• NP_001352881.1:p.Ile1136Thr
• NP_055889.2:p.Ile1090Thr
• LRG_252t1:c.3269T>C
• LRG_252t2:c.3407T>C
• LRG_252:g.131813T>C
• LRG_252p1:p.Ile1090Thr
• LRG_252p2:p.Ile1136Thr
• NC_000001.10:g.10397576T>C

This HGVS expression did not pass validation

Protein change:

I1090T

Links:

dbSNP: rs374098797

NCBI 1000 Genomes Browser:

rs374098797

Molecular consequence:

• NM_001365951.3:c.3407T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365952.1:c.3407T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_015074.3:c.3269T>C - missense variant - [Sequence Ontology: SO:0001583]