ClinVar

NM_000245.4(MET):c.406G>A (p.Val136Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116699490 (on Assembly GRCh38)
• Chr7: 116339544 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.406G>A (p.Val136Ile)

HGVS:

• NC_000007.14:g.116699490G>A
• NG_008996.1:g.32086G>A
• NM_000245.4:c.406G>AMANE SELECT
• NM_001127500.3:c.406G>A
• NM_001324401.3:c.406G>A
• NM_001324402.2:c.-91+26913G>A
• NP_000236.2:p.Val136Ile
• NP_001120972.1:p.Val136Ile
• NP_001311330.1:p.Val136Ile
• LRG_662t1:c.406G>A
• LRG_662:g.32086G>A
• NC_000007.13:g.116339544G>A
• NM_000245.3:c.406G>A
• NM_000245.4:c.406G>A
• NM_001127500.1:c.406G>A
• NM_001127500.2:c.406G>A
• p.V136I

This HGVS expression did not pass validation

Protein change:

V136I

Links:

dbSNP: rs199701987

NCBI 1000 Genomes Browser:

rs199701987

Molecular consequence:

• NM_001324402.2:c.-91+26913G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000245.4:c.406G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127500.3:c.406G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324401.3:c.406G>A - missense variant - [Sequence Ontology: SO:0001583]