ClinVar

NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)

Gene:

MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q13

Genomic location:

• Chr2: 112028472 (on Assembly GRCh38)
• Chr2: 112786049 (on Assembly GRCh37)

Preferred name:

NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)

HGVS:

• NC_000002.12:g.112028472G>A
• NG_011607.1:g.134859G>A
• NM_006343.3:c.2608G>AMANE SELECT
• NP_006334.2:p.Val870Ile
• NP_006334.2:p.Val870Ile
• NC_000002.11:g.112786049G>A
• NM_006343.2:c.2608G>A
• Q12866:p.Val870Ile

This HGVS expression did not pass validation

Protein change:

V870I

Links:

UniProtKB: Q12866#VAR_029237; dbSNP: rs2230517

NCBI 1000 Genomes Browser:

rs2230517

Molecular consequence:

• NM_006343.3:c.2608G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1