ClinVar

NM_001365951.3(KIF1B):c.3644C>A (p.Pro1215Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 10343243 (on Assembly GRCh38)
• Chr1: 10403301 (on Assembly GRCh37)

Preferred name:

NM_001365951.3(KIF1B):c.3644C>A (p.Pro1215Gln)

HGVS:

• NC_000001.11:g.10343243C>A
• NG_008069.1:g.137538C>A
• NM_001365951.3:c.3644C>AMANE SELECT
• NM_001365952.1:c.3644C>A
• NM_015074.3:c.3506C>A
• NP_001352880.1:p.Pro1215Gln
• NP_001352881.1:p.Pro1215Gln
• NP_055889.2:p.Pro1169Gln
• LRG_252t1:c.3506C>A
• LRG_252t2:c.3644C>A
• LRG_252:g.137538C>A
• LRG_252p1:p.Pro1169Gln
• LRG_252p2:p.Pro1215Gln
• NC_000001.10:g.10403301C>A
• p.Pro1169Gln

This HGVS expression did not pass validation

Protein change:

P1169Q

Links:

dbSNP: rs369255811

NCBI 1000 Genomes Browser:

rs369255811

Molecular consequence:

• NM_001365951.3:c.3644C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365952.1:c.3644C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015074.3:c.3506C>A - missense variant - [Sequence Ontology: SO:0001583]