ClinVar

NM_000222.3(KIT):c.1621A>C (p.Met541Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

• Chr4: 54727298 (on Assembly GRCh38)
• Chr4: 55593464 (on Assembly GRCh37)

Preferred name:

NM_000222.3(KIT):c.1621A>C (p.Met541Leu)

HGVS:

• NC_000004.12:g.54727298A>C
• NG_007456.1:g.74304A>C
• NM_000222.3:c.1621A>CMANE SELECT
• NM_001093772.2:c.1609A>C
• NM_001385284.1:c.1624A>C
• NM_001385285.1:c.1621A>C
• NM_001385286.1:c.1609A>C
• NM_001385288.1:c.1612A>C
• NM_001385290.1:c.1624A>C
• NM_001385292.1:c.1612A>C
• NP_000213.1:p.Met541Leu
• NP_000213.1:p.Met541Leu
• NP_001087241.1:p.Met537Leu
• NP_001372213.1:p.Met542Leu
• NP_001372214.1:p.Met541Leu
• NP_001372215.1:p.Met537Leu
• NP_001372217.1:p.Met538Leu
• NP_001372219.1:p.Met542Leu
• NP_001372221.1:p.Met538Leu
• LRG_307t1:c.1621A>C
• LRG_307:g.74304A>C
• LRG_307p1:p.Met541Leu
• NC_000004.11:g.55593464A>C
• NM_000222.2:c.1621A>C
• P10721:p.Met541Leu

This HGVS expression did not pass validation

Protein change:

M537L

Links:

UniProtKB: P10721#VAR_042022; dbSNP: rs3822214

NCBI 1000 Genomes Browser:

rs3822214

Molecular consequence:

• NM_000222.3:c.1621A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001093772.2:c.1609A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385284.1:c.1624A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385285.1:c.1621A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385286.1:c.1609A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385288.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385290.1:c.1624A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385292.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]