ClinVar

NM_000245.4(MET):c.1237C>T (p.Arg413Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116731704 (on Assembly GRCh38)
• Chr7: 116371758 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.1237C>T (p.Arg413Cys)

HGVS:

• NC_000007.14:g.116731704C>T
• NG_008996.1:g.64300C>T
• NM_000245.4:c.1237C>TMANE SELECT
• NM_001127500.3:c.1237C>T
• NM_001324401.3:c.1237C>T
• NM_001324402.2:c.-54C>T
• NP_000236.2:p.Arg413Cys
• NP_001120972.1:p.Arg413Cys
• NP_001311330.1:p.Arg413Cys
• LRG_662t1:c.1237C>T
• LRG_662:g.64300C>T
• NC_000007.13:g.116371758C>T
• NM_001127500.1:c.1237C>T

This HGVS expression did not pass validation

Protein change:

R413C

Links:

dbSNP: rs201980687

NCBI 1000 Genomes Browser:

rs201980687

Molecular consequence:

• NM_001324402.2:c.-54C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000245.4:c.1237C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127500.3:c.1237C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324401.3:c.1237C>T - missense variant - [Sequence Ontology: SO:0001583]