ClinVar

NM_001168.3(BIRC5):c.*50G>C

Gene:

BIRC5:baculoviral IAP repeat containing 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 78223604 (on Assembly GRCh38)
• Chr17: 76219685 (on Assembly GRCh37)

Preferred name:

NM_001168.3(BIRC5):c.*50G>C

HGVS:

• NC_000017.11:g.78223604G>C
• NG_029069.1:g.14409G>C
• NM_001012270.2:c.361G>C
• NM_001012271.2:c.*50G>C
• NM_001168.3:c.*50G>CMANE SELECT
• NP_001012270.1:p.Gly121Arg
• NC_000017.10:g.76219685G>C
• NR_002219.1:n.730C>G

This HGVS expression did not pass validation

Protein change:

G121R

Molecular consequence:

• NM_001012271.2:c.*50G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001168.3:c.*50G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001012270.2:c.361G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2