ClinVar

NM_000245.4(MET):c.689C>T (p.Thr230Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116699773 (on Assembly GRCh38)
• Chr7: 116339827 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.689C>T (p.Thr230Met)

HGVS:

• NC_000007.14:g.116699773C>T
• NG_008996.1:g.32369C>T
• NM_000245.4:c.689C>TMANE SELECT
• NM_001127500.3:c.689C>T
• NM_001324401.3:c.689C>T
• NM_001324402.2:c.-91+27196C>T
• NP_000236.2:p.Thr230Met
• NP_001120972.1:p.Thr230Met
• NP_001311330.1:p.Thr230Met
• LRG_662t1:c.689C>T
• LRG_662:g.32369C>T
• NC_000007.13:g.116339827C>T
• NM_001127500.1:c.689C>T

This HGVS expression did not pass validation

Protein change:

T230M

Links:

dbSNP: rs587780740

NCBI 1000 Genomes Browser:

rs587780740

Molecular consequence:

• NM_001324402.2:c.-91+27196C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000245.4:c.689C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127500.3:c.689C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324401.3:c.689C>T - missense variant - [Sequence Ontology: SO:0001583]