ClinVar

NM_005534.4(IFNGR2):c.37C>T (p.Leu13Phe)

Genes:

LOC119266102:IFNGR2 promoter region [Gene]
IFNGR2:interferon gamma receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

• Chr21: 33403580 (on Assembly GRCh38)
• Chr21: 34775886 (on Assembly GRCh37)

Preferred name:

NM_005534.4(IFNGR2):c.37C>T (p.Leu13Phe)

HGVS:

• NC_000021.9:g.33403580C>T
• NG_007570.2:g.23588C>T
• NG_070955.1:g.1320C>T
• NM_001329128.2:c.37C>T
• NM_005534.4:c.37C>TMANE SELECT
• NP_001316057.1:p.Leu13Phe
• NP_005525.2:p.Leu13Phe
• NP_005525.2:p.Leu13Phe
• LRG_67t1:c.37C>T
• LRG_67:g.23588C>T
• LRG_67p1:p.Leu13Phe
• NC_000021.8:g.34775886C>T
• NM_005534.3:c.37C>T

This HGVS expression did not pass validation

Protein change:

L13F

Links:

dbSNP: rs1012938610

NCBI 1000 Genomes Browser:

rs1012938610

Molecular consequence:

• NM_001329128.2:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005534.4:c.37C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1