ClinVar

NM_000245.4(MET):c.2342A>C (p.Glu781Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116759468 (on Assembly GRCh38)
• Chr7: 116399522 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.2342A>C (p.Glu781Ala)

HGVS:

• NC_000007.14:g.116759468A>C
• NG_008996.1:g.92064A>C
• NM_000245.4:c.2342A>CMANE SELECT
• NM_001127500.3:c.2396A>C
• NM_001324401.3:c.2342A>C
• NM_001324402.2:c.1052A>C
• NP_000236.2:p.Glu781Ala
• NP_001120972.1:p.Glu799Ala
• NP_001311330.1:p.Glu781Ala
• NP_001311331.1:p.Glu351Ala
• LRG_662t1:c.2396A>C
• LRG_662:g.92064A>C
• NC_000007.13:g.116399522A>C
• NM_001127500.1:c.2396A>C

This HGVS expression did not pass validation

Protein change:

E351A

Links:

dbSNP: rs771231484

NCBI 1000 Genomes Browser:

rs771231484

Molecular consequence:

• NM_000245.4:c.2342A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127500.3:c.2396A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324401.3:c.2342A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324402.2:c.1052A>C - missense variant - [Sequence Ontology: SO:0001583]