ClinVar

NM_000222.3(KIT):c.2531G>A (p.Cys844Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54736544 (on Assembly GRCh38)
• Chr4: 55602710 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.2531G>A (p.Cys844Tyr)

HGVS:

• NC_000004.12:g.54736544G>A
• NG_007456.1:g.83550G>A
• NM_000222.3:c.2531G>AMANE SELECT
• NM_001093772.2:c.2519G>A
• NM_001385284.1:c.2534G>A
• NM_001385285.1:c.2528G>A
• NM_001385286.1:c.2516G>A
• NM_001385288.1:c.2522G>A
• NM_001385290.1:c.2531G>A
• NM_001385292.1:c.2519G>A
• NP_000213.1:p.Cys844Tyr
• NP_000213.1:p.Cys844Tyr
• NP_001087241.1:p.Cys840Tyr
• NP_001372213.1:p.Cys845Tyr
• NP_001372214.1:p.Cys843Tyr
• NP_001372215.1:p.Cys839Tyr
• NP_001372217.1:p.Cys841Tyr
• NP_001372219.1:p.Cys844Tyr
• NP_001372221.1:p.Cys840Tyr
• LRG_307t1:c.2531G>A
• LRG_307:g.83550G>A
• LRG_307p1:p.Cys844Tyr
• NC_000004.11:g.55602710G>A
• NM_000222.2:c.2531G>A

This HGVS expression did not pass validation

Protein change:

C839Y

Links:

dbSNP: rs147609111

NCBI 1000 Genomes Browser:

rs147609111

Molecular consequence:

• NM_000222.3:c.2531G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001093772.2:c.2519G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385284.1:c.2534G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385285.1:c.2528G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385286.1:c.2516G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385288.1:c.2522G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385290.1:c.2531G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385292.1:c.2519G>A - missense variant - [Sequence Ontology: SO:0001583]