ClinVar

NM_001244753.2(FCGR3B):c.368C>T (p.Pro123Leu)

Gene:

FCGR3B:Fc gamma receptor IIIb [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161626354 (on Assembly GRCh38)
• Chr1: 161596144 (on Assembly GRCh37)

Preferred name:

NM_001244753.2(FCGR3B):c.368C>T (p.Pro123Leu)

HGVS:

• NC_000001.11:g.161626354G>A
• NG_032926.2:g.10610C>T
• NM_000570.5:c.368C>T
• NM_001244753.2:c.368C>TMANE SELECT
• NM_001271035.2:c.365C>T
• NM_001271036.2:c.317C>T
• NM_001271037.2:c.269-1715C>T
• NP_000561.3:p.Pro123Leu
• NP_001231682.2:p.Pro123Leu
• NP_001257964.2:p.Pro122Leu
• NP_001257965.1:p.Pro106Leu
• LRG_1238t1:c.368C>T
• LRG_1238:g.10610C>T
• LRG_1238p1:p.Pro123Leu
• NC_000001.10:g.161596144G>A
• NM_000570.4:c.368C>T

This HGVS expression did not pass validation

Protein change:

P106L

Molecular consequence:

• NM_001271037.2:c.269-1715C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000570.5:c.368C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001244753.2:c.368C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271035.2:c.365C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271036.2:c.317C>T - missense variant - [Sequence Ontology: SO:0001583]