ClinVar

NM_000245.4(MET):c.2285G>A (p.Gly762Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 116759411 (on Assembly GRCh38)
• Chr7: 116399465 (on Assembly GRCh37)

Preferred name:

NM_000245.4(MET):c.2285G>A (p.Gly762Asp)

HGVS:

• NC_000007.14:g.116759411G>A
• NG_008996.1:g.92007G>A
• NM_000245.4:c.2285G>AMANE SELECT
• NM_001127500.3:c.2339G>A
• NM_001324401.3:c.2285G>A
• NM_001324402.2:c.995G>A
• NP_000236.2:p.Gly762Asp
• NP_001120972.1:p.Gly780Asp
• NP_001311330.1:p.Gly762Asp
• NP_001311331.1:p.Gly332Asp
• LRG_662t1:c.2339G>A
• LRG_662:g.92007G>A
• NC_000007.13:g.116399465G>A
• NM_001127500.1:c.2339G>A
• NM_001127500.3:c.2339G>A

This HGVS expression did not pass validation

Protein change:

G332D

Links:

dbSNP: rs1060503541

NCBI 1000 Genomes Browser:

rs1060503541

Molecular consequence:

• NM_000245.4:c.2285G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127500.3:c.2339G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324401.3:c.2285G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324402.2:c.995G>A - missense variant - [Sequence Ontology: SO:0001583]