ClinVar

NM_000245.4(MET):c.3726T>A (p.Gly1242=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116783397 (on Assembly GRCh38)
• Chr7: 116423451 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.3726T>A (p.Gly1242=)

HGVS:

• NC_000007.14:g.116783397T>A
• NG_008996.1:g.115993T>A
• NM_000245.4:c.3726T>AMANE SELECT
• NM_001127500.3:c.3780T>A
• NM_001324402.2:c.2436T>A
• NP_000236.2:p.Gly1242=
• NP_001120972.1:p.Gly1260=
• NP_001311331.1:p.Gly812=
• LRG_662t1:c.3780T>A
• LRG_662:g.115993T>A
• NC_000007.13:g.116423451T>A
• NM_001127500.1:c.3780T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2117066669

NCBI 1000 Genomes Browser:

rs2117066669

Molecular consequence:

• NM_000245.4:c.3726T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127500.3:c.3780T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324402.2:c.2436T>A - synonymous variant - [Sequence Ontology: SO:0001819]