ClinVar

NM_000245.4(MET):c.1306G>C (p.Glu436Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116731773 (on Assembly GRCh38)
• Chr7: 116371827 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.1306G>C (p.Glu436Gln)

HGVS:

• NC_000007.14:g.116731773G>C
• NG_008996.1:g.64369G>C
• NM_000245.4:c.1306G>CMANE SELECT
• NM_001127500.3:c.1306G>C
• NM_001324401.3:c.1306G>C
• NM_001324402.2:c.16G>C
• NP_000236.2:p.Glu436Gln
• NP_001120972.1:p.Glu436Gln
• NP_001311330.1:p.Glu436Gln
• NP_001311331.1:p.Glu6Gln
• LRG_662:g.64369G>C
• NC_000007.13:g.116371827G>C
• NM_000245.2:c.1306G>C
• NM_001127500.2:c.1306G>C

This HGVS expression did not pass validation

Protein change:

E436Q

Links:

dbSNP: rs200740468

NCBI 1000 Genomes Browser:

rs200740468

Molecular consequence:

• NM_000245.4:c.1306G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127500.3:c.1306G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324401.3:c.1306G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324402.2:c.16G>C - missense variant - [Sequence Ontology: SO:0001583]