ClinVar

NM_001168.3(BIRC5):c.247G>A (p.Gly83Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 78216689 (on Assembly GRCh38)
• Chr17: 76212770 (on Assembly GRCh37)

Preferred name:

NM_001168.3(BIRC5):c.247G>A (p.Gly83Ser)

HGVS:

• NC_000017.11:g.78216689G>A
• NG_029069.1:g.7494G>A
• NM_001012270.2:c.221+1900G>A
• NM_001012271.2:c.316G>A
• NM_001168.3:c.247G>AMANE SELECT
• NP_001012271.1:p.Gly106Ser
• NP_001159.2:p.Gly83Ser
• NC_000017.10:g.76212770G>A
• NM_001012271.1:c.316G>A
• NR_002219.1:n.963C>T

This HGVS expression did not pass validation

Protein change:

G106S

Molecular consequence:

• NM_001012270.2:c.221+1900G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001012271.2:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001168.3:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]