ClinVar

NM_000222.3(KIT):c.1727T>C (p.Leu576Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54727495 (on Assembly GRCh38)
• Chr4: 55593661 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.1727T>C (p.Leu576Pro)

HGVS:

• NC_000004.12:g.54727495T>C
• NG_007456.1:g.74501T>C
• NM_000222.3:c.1727T>CMANE SELECT
• NM_001093772.2:c.1715T>C
• NM_001385284.1:c.1730T>C
• NM_001385285.1:c.1727T>C
• NM_001385286.1:c.1715T>C
• NM_001385288.1:c.1718T>C
• NM_001385290.1:c.1730T>C
• NM_001385292.1:c.1718T>C
• NP_000213.1:p.Leu576Pro
• NP_000213.1:p.Leu576Pro
• NP_001087241.1:p.Leu572Pro
• NP_001372213.1:p.Leu577Pro
• NP_001372214.1:p.Leu576Pro
• NP_001372215.1:p.Leu572Pro
• NP_001372217.1:p.Leu573Pro
• NP_001372219.1:p.Leu577Pro
• NP_001372221.1:p.Leu573Pro
• LRG_307t1:c.1727T>C
• LRG_307:g.74501T>C
• LRG_307p1:p.Leu576Pro
• NC_000004.11:g.55593661T>C
• NM_000222.2:c.1727T>C

This HGVS expression did not pass validation

Protein change:

L572P

Links:

dbSNP: rs121913513

NCBI 1000 Genomes Browser:

rs121913513

Molecular consequence:

• NM_000222.3:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001093772.2:c.1715T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385284.1:c.1730T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385285.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385286.1:c.1715T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385288.1:c.1718T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385290.1:c.1730T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385292.1:c.1718T>C - missense variant - [Sequence Ontology: SO:0001583]