ClinVar

NM_182902.4(KIF9):c.1721C>T (p.Pro574Leu)

Genes:

KIF9-AS1:KIF9 antisense RNA 1 [Gene - HGNC]
KIF9:kinesin family member 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 47241004 (on Assembly GRCh38)
• Chr3: 47282494 (on Assembly GRCh37)

Preferred name:

NM_182902.4(KIF9):c.1721C>T (p.Pro574Leu)

HGVS:

• NC_000003.12:g.47241004G>A
• NM_001134878.3:c.1721C>T
• NM_001377474.1:c.1496C>T
• NM_001377475.1:c.1301C>T
• NM_001413975.1:c.1763C>T
• NM_001413976.1:c.1820C>T
• NM_022342.6:c.1526C>T
• NM_182902.4:c.1721C>TMANE SELECT
• NP_001128350.1:p.Pro574Leu
• NP_001364403.1:p.Pro499Leu
• NP_001364404.1:p.Pro434Leu
• NP_001400904.1:p.Pro588Leu
• NP_001400905.1:p.Pro607Leu
• NP_071737.1:p.Pro509Leu
• NP_878905.2:p.Pro574Leu
• NC_000003.11:g.47282494G>A
• NM_001134878.1:c.1721C>T

This HGVS expression did not pass validation

Protein change:

P434L

Molecular consequence:

• NM_001134878.3:c.1721C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377474.1:c.1496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377475.1:c.1301C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413975.1:c.1763C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413976.1:c.1820C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022342.6:c.1526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_182902.4:c.1721C>T - missense variant - [Sequence Ontology: SO:0001583]