ClinVar

NM_000222.3(KIT):c.1951A>T (p.Met651Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54728082 (on Assembly GRCh38)
• Chr4: 55594248 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.1951A>T (p.Met651Leu)

HGVS:

• NC_000004.12:g.54728082A>T
• NG_007456.1:g.75088A>T
• NM_000222.3:c.1951A>TMANE SELECT
• NM_001093772.2:c.1939A>T
• NM_001385284.1:c.1954A>T
• NM_001385285.1:c.1951A>T
• NM_001385286.1:c.1939A>T
• NM_001385288.1:c.1942A>T
• NM_001385290.1:c.1954A>T
• NM_001385292.1:c.1942A>T
• NP_000213.1:p.Met651Leu
• NP_000213.1:p.Met651Leu
• NP_001087241.1:p.Met647Leu
• NP_001372213.1:p.Met652Leu
• NP_001372214.1:p.Met651Leu
• NP_001372215.1:p.Met647Leu
• NP_001372217.1:p.Met648Leu
• NP_001372219.1:p.Met652Leu
• NP_001372221.1:p.Met648Leu
• LRG_307t1:c.1951A>T
• LRG_307:g.75088A>T
• LRG_307p1:p.Met651Leu
• NC_000004.11:g.55594248A>T
• NM_000222.2:c.1951A>T

This HGVS expression did not pass validation

Protein change:

M647L

Links:

dbSNP: rs534209826

NCBI 1000 Genomes Browser:

rs534209826

Molecular consequence:

• NM_000222.3:c.1951A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001093772.2:c.1939A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385284.1:c.1954A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385285.1:c.1951A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385286.1:c.1939A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385288.1:c.1942A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385290.1:c.1954A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385292.1:c.1942A>T - missense variant - [Sequence Ontology: SO:0001583]