ClinVar

NM_000222.3(KIT):c.1652C>T (p.Pro551Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54727420 (on Assembly GRCh38)
• Chr4: 55593586 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.1652C>T (p.Pro551Leu)

HGVS:

• NC_000004.12:g.54727420C>T
• NG_007456.1:g.74426C>T
• NM_000222.3:c.1652C>TMANE SELECT
• NM_001093772.2:c.1640C>T
• NM_001385284.1:c.1655C>T
• NM_001385285.1:c.1652C>T
• NM_001385286.1:c.1640C>T
• NM_001385288.1:c.1643C>T
• NM_001385290.1:c.1655C>T
• NM_001385292.1:c.1643C>T
• NP_000213.1:p.Pro551Leu
• NP_001087241.1:p.Pro547Leu
• NP_001372213.1:p.Pro552Leu
• NP_001372214.1:p.Pro551Leu
• NP_001372215.1:p.Pro547Leu
• NP_001372217.1:p.Pro548Leu
• NP_001372219.1:p.Pro552Leu
• NP_001372221.1:p.Pro548Leu
• LRG_307t1:c.1652C>T
• LRG_307:g.74426C>T
• NC_000004.11:g.55593586C>T
• NM_000222.2:c.1652C>T

This HGVS expression did not pass validation

Protein change:

P547L

Links:

dbSNP: rs1722299442

NCBI 1000 Genomes Browser:

rs1722299442

Molecular consequence:

• NM_000222.3:c.1652C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001093772.2:c.1640C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385284.1:c.1655C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385285.1:c.1652C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385286.1:c.1640C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385288.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385290.1:c.1655C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385292.1:c.1643C>T - missense variant - [Sequence Ontology: SO:0001583]