ClinVar

NM_014417.5(BBC3):c.261C>T (p.Gly87=)

Genes:

LOC130064797:ATAC-STARR-seq lymphoblastoid silent region 10841 [Gene]
BBC3:BCL2 binding component 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 47228171 (on Assembly GRCh38)
• Chr19: 47731428 (on Assembly GRCh37)

Preferred name:

NM_014417.5(BBC3):c.261C>T (p.Gly87=)

HGVS:

• NC_000019.10:g.47228171G>A
• NG_031991.2:g.9596C>T
• NM_001127240.3:c.364C>T
• NM_001127241.3:c.89-1417C>T
• NM_001127242.3:c.88+4344C>T
• NM_014417.5:c.261C>TMANE SELECT
• NP_001120712.1:p.Pro122Ser
• NP_055232.1:p.Gly87=
• NC_000019.9:g.47731428G>A
• NM_001127240.1:c.364C>T

This HGVS expression did not pass validation

Protein change:

P122S

Molecular consequence:

• NM_001127241.3:c.89-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127242.3:c.88+4344C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127240.3:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014417.5:c.261C>T - synonymous variant - [Sequence Ontology: SO:0001819]