ClinVar

NM_001365951.3(KIF1B):c.2115+6213G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 10303459 (on Assembly GRCh38)
• Chr1: 10363517 (on Assembly GRCh37)

Preferred name:

NM_001365951.3(KIF1B):c.2115+6213G>T

HGVS:

• NC_000001.11:g.10303459G>T
• NG_008069.1:g.97754G>T
• NM_001365951.3:c.2115+6213G>TMANE SELECT
• NM_001365952.1:c.2115+6213G>T
• NM_001365953.1:c.2274G>T
• NM_015074.3:c.1977+6213G>T
• NM_183416.4:c.2274G>T
• NP_001352882.1:p.Glu758Asp
• NP_904325.2:p.Glu758Asp
• LRG_252t1:c.1977+6213G>T
• LRG_252t2:c.2115+6213G>T
• LRG_252:g.97754G>T
• NC_000001.10:g.10363517G>T
• NM_183416.3:c.2274G>T

This HGVS expression did not pass validation

Protein change:

E758D

Links:

dbSNP: rs587777883

NCBI 1000 Genomes Browser:

rs587777883

Molecular consequence:

• NM_001365951.3:c.2115+6213G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365952.1:c.2115+6213G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_015074.3:c.1977+6213G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365953.1:c.2274G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_183416.4:c.2274G>T - missense variant - [Sequence Ontology: SO:0001583]