ClinVar

NM_000222.3(KIT):c.1468G>A (p.Glu490Lys)

Gene:

KIT:KIT proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54725978 (on Assembly GRCh38)
• Chr4: 55592144 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.1468G>A (p.Glu490Lys)

HGVS:

• NC_000004.12:g.54725978G>A
• NG_007456.1:g.72984G>A
• NM_000222.3:c.1468G>AMANE SELECT
• NM_001093772.2:c.1468G>A
• NM_001385284.1:c.1471G>A
• NM_001385285.1:c.1468G>A
• NM_001385286.1:c.1468G>A
• NM_001385288.1:c.1471G>A
• NM_001385290.1:c.1471G>A
• NM_001385292.1:c.1471G>A
• NP_000213.1:p.Glu490Lys
• NP_001087241.1:p.Glu490Lys
• NP_001372213.1:p.Glu491Lys
• NP_001372214.1:p.Glu490Lys
• NP_001372215.1:p.Glu490Lys
• NP_001372217.1:p.Glu491Lys
• NP_001372219.1:p.Glu491Lys
• NP_001372221.1:p.Glu491Lys
• LRG_307:g.72984G>A
• NC_000004.11:g.55592144G>A

This HGVS expression did not pass validation

Protein change:

E490K

Links:

dbSNP: rs1057519701

NCBI 1000 Genomes Browser:

rs1057519701

Molecular consequence:

• NM_000222.3:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001093772.2:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385284.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385285.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385286.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385288.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385290.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385292.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]