ClinVar

NM_000222.3(KIT):c.1676T>C (p.Val559Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54727444 (on Assembly GRCh38)
• Chr4: 55593610 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.1676T>C (p.Val559Ala)

HGVS:

• NC_000004.12:g.54727444T>C
• NG_007456.1:g.74450T>C
• NM_000222.3:c.1676T>CMANE SELECT
• NM_001093772.2:c.1664T>C
• NM_001385284.1:c.1679T>C
• NM_001385285.1:c.1676T>C
• NM_001385286.1:c.1664T>C
• NM_001385288.1:c.1667T>C
• NM_001385290.1:c.1679T>C
• NM_001385292.1:c.1667T>C
• NP_000213.1:p.Val559Ala
• NP_001087241.1:p.Val555Ala
• NP_001372213.1:p.Val560Ala
• NP_001372214.1:p.Val559Ala
• NP_001372215.1:p.Val555Ala
• NP_001372217.1:p.Val556Ala
• NP_001372219.1:p.Val560Ala
• NP_001372221.1:p.Val556Ala
• LRG_307:g.74450T>C
• NC_000004.11:g.55593610T>C
• P10721:p.Val559Ala

This HGVS expression did not pass validation

Protein change:

V555A; VAL559ALA

Links:

UniProtKB: P10721#VAR_033126; OMIM: 164920.0023; dbSNP: rs121913517

NCBI 1000 Genomes Browser:

rs121913517

Molecular consequence:

• NM_000222.3:c.1676T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001093772.2:c.1664T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385284.1:c.1679T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385285.1:c.1676T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385286.1:c.1664T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385288.1:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385290.1:c.1679T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385292.1:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]