ClinVar

NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 10339776 (on Assembly GRCh38)
• Chr1: 10399834 (on Assembly GRCh37)

Preferred name:

NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr)

HGVS:

• NC_000001.11:g.10339776C>T
• NG_008069.1:g.134071C>T
• NM_001365951.3:c.3430C>TMANE SELECT
• NM_001365952.1:c.3430C>T
• NM_015074.3:c.3292C>T
• NP_001352880.1:p.His1144Tyr
• NP_001352881.1:p.His1144Tyr
• NP_055889.2:p.His1098Tyr
• LRG_252t1:c.3292C>T
• LRG_252t2:c.3430C>T
• LRG_252:g.134071C>T
• LRG_252p1:p.His1098Tyr
• LRG_252p2:p.His1144Tyr
• NC_000001.10:g.10399834C>T

This HGVS expression did not pass validation

Protein change:

H1098Y

Links:

dbSNP: rs1230762716

NCBI 1000 Genomes Browser:

rs1230762716

Molecular consequence:

• NM_001365951.3:c.3430C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365952.1:c.3430C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015074.3:c.3292C>T - missense variant - [Sequence Ontology: SO:0001583]