ClinVar

NM_005214.5(CTLA4):c.501T>C (p.Leu167=)

Gene:

CTLA4:cytotoxic T-lymphocyte associated protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.2

Genomic location:

• Chr2: 203871421 (on Assembly GRCh38)
• Chr2: 204736144 (on Assembly GRCh37)

Preferred name:

NM_005214.5(CTLA4):c.501T>C (p.Leu167=)

HGVS:

• NC_000002.12:g.203871421T>C
• NG_011502.1:g.8636T>C
• NM_001037631.3:c.457+488T>C
• NM_005214.5:c.501T>CMANE SELECT
• NP_005205.2:p.Leu167=
• LRG_1220t1:c.501T>C
• LRG_1220:g.8636T>C
• LRG_1220p1:p.Leu167=
• NC_000002.11:g.204736144T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs749059847

NCBI 1000 Genomes Browser:

rs749059847

Molecular consequence:

• NM_001037631.3:c.457+488T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_005214.5:c.501T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3