ClinVar

NM_000245.4(MET):c.2318C>T (p.Pro773Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116759444 (on Assembly GRCh38)
• Chr7: 116399498 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.2318C>T (p.Pro773Leu)

HGVS:

• NC_000007.14:g.116759444C>T
• NG_008996.1:g.92040C>T
• NM_000245.4:c.2318C>TMANE SELECT
• NM_001127500.3:c.2372C>T
• NM_001324401.3:c.2318C>T
• NM_001324402.2:c.1028C>T
• NP_000236.2:p.Pro773Leu
• NP_001120972.1:p.Pro791Leu
• NP_001311330.1:p.Pro773Leu
• NP_001311331.1:p.Pro343Leu
• LRG_662t1:c.2372C>T
• LRG_662:g.92040C>T
• NC_000007.13:g.116399498C>T
• NM_001127500.1:c.2372C>T
• NM_001127500.2:c.2372C>T

This HGVS expression did not pass validation

Protein change:

P343L

Links:

dbSNP: rs771333219

NCBI 1000 Genomes Browser:

rs771333219

Molecular consequence:

• NM_000245.4:c.2318C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127500.3:c.2372C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324401.3:c.2318C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324402.2:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]