ClinVar

NM_018965.4(TREM2):c.140G>A (p.Arg47His)

Gene:

TREM2:triggering receptor expressed on myeloid cells 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 41161514 (on Assembly GRCh38)
• Chr6: 41129252 (on Assembly GRCh37)

Preferred name:

NM_018965.4(TREM2):c.140G>A (p.Arg47His)

HGVS:

• NC_000006.12:g.41161514C>T
• NG_011561.1:g.6671G>A
• NM_001271821.2:c.140G>A
• NM_018965.4:c.140G>AMANE SELECT
• NP_001258750.1:p.Arg47His
• NP_061838.1:p.Arg47His
• NP_061838.1:p.Arg47His
• LRG_631t1:c.140G>A
• LRG_631:g.6671G>A
• LRG_631p1:p.Arg47His
• NC_000006.11:g.41129252C>T
• NM_018965.2:c.140G>A
• NM_018965.3:c.140G>A

This HGVS expression did not pass validation

Protein change:

R47H

Links:

dbSNP: rs75932628

NCBI 1000 Genomes Browser:

rs75932628

Molecular consequence:

• NM_001271821.2:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018965.4:c.140G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1