ClinVar

NM_000245.4(MET):c.1686G>C (p.Leu562=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116741010 (on Assembly GRCh38)
• Chr7: 116381064 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.1686G>C (p.Leu562=)

HGVS:

• NC_000007.14:g.116741010G>C
• NG_008996.1:g.73606G>C
• NM_000245.4:c.1686G>CMANE SELECT
• NM_001127500.3:c.1686G>C
• NM_001324401.3:c.1686G>C
• NM_001324402.2:c.396G>C
• NP_000236.2:p.Leu562=
• NP_001120972.1:p.Leu562=
• NP_001311330.1:p.Leu562=
• NP_001311331.1:p.Leu132=
• LRG_662t1:c.1686G>C
• LRG_662:g.73606G>C
• NC_000007.13:g.116381064G>C
• NM_001127500.1:c.1686G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs2116837926

NCBI 1000 Genomes Browser:

rs2116837926

Molecular consequence:

• NM_000245.4:c.1686G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127500.3:c.1686G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324401.3:c.1686G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324402.2:c.396G>C - synonymous variant - [Sequence Ontology: SO:0001819]