ClinVar

NM_000222.3(KIT):c.2485G>C (p.Ala829Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54736498 (on Assembly GRCh38)
• Chr4: 55602664 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.2485G>C (p.Ala829Pro)

HGVS:

• NC_000004.12:g.54736498G>C
• NG_007456.1:g.83504G>C
• NM_000222.3:c.2485G>CMANE SELECT
• NM_001093772.2:c.2473G>C
• NM_001385284.1:c.2488G>C
• NM_001385285.1:c.2482G>C
• NM_001385286.1:c.2470G>C
• NM_001385288.1:c.2476G>C
• NM_001385290.1:c.2485G>C
• NM_001385292.1:c.2473G>C
• NP_000213.1:p.Ala829Pro
• NP_001087241.1:p.Ala825Pro
• NP_001372213.1:p.Ala830Pro
• NP_001372214.1:p.Ala828Pro
• NP_001372215.1:p.Ala824Pro
• NP_001372217.1:p.Ala826Pro
• NP_001372219.1:p.Ala829Pro
• NP_001372221.1:p.Ala825Pro
• LRG_307:g.83504G>C
• NC_000004.11:g.55602664G>C

This HGVS expression did not pass validation

Protein change:

A824P

Links:

dbSNP: rs1057519713

NCBI 1000 Genomes Browser:

rs1057519713

Molecular consequence:

• NM_000222.3:c.2485G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001093772.2:c.2473G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385284.1:c.2488G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385285.1:c.2482G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385286.1:c.2470G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385288.1:c.2476G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385290.1:c.2485G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385292.1:c.2473G>C - missense variant - [Sequence Ontology: SO:0001583]