ClinVar

NM_000245.4(MET):c.2975C>T (p.Thr992Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116771936 (on Assembly GRCh38)
• Chr7: 116411990 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.2975C>T (p.Thr992Ile)

HGVS:

• NC_000007.14:g.116771936C>T
• NG_008996.1:g.104532C>T
• NM_000245.4:c.2975C>TMANE SELECT
• NM_001127500.3:c.3029C>T
• NM_001324402.2:c.1685C>T
• NP_000236.2:p.Thr992Ile
• NP_001120972.1:p.Thr1010Ile
• NP_001120972.1:p.Thr1010Ile
• NP_001311331.1:p.Thr562Ile
• LRG_662t1:c.3029C>T
• LRG_662:g.104532C>T
• LRG_662p1:p.Thr1010Ile
• NC_000007.13:g.116411990C>T
• NM_000245.2:c.2975C>T
• NM_001127500.1:c.3029C>T
• NM_001127500.2:c.3029C>T
• p.T1010I

This HGVS expression did not pass validation

Protein change:

T1010I

Links:

dbSNP: rs56391007

NCBI 1000 Genomes Browser:

rs56391007

Molecular consequence:

• NM_000245.4:c.2975C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127500.3:c.3029C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324402.2:c.1685C>T - missense variant - [Sequence Ontology: SO:0001583]