ClinVar

NM_001123385.2(BCOR):c.2124C>T (p.Thr708=)

Gene:

BCOR:BCL6 corepressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 40073222 (on Assembly GRCh38)
• ChrX: 39932475 (on Assembly GRCh37)

Preferred name:

NM_001123385.2(BCOR):c.2124C>T (p.Thr708=)

HGVS:

• NC_000023.11:g.40073222G>A
• NG_008880.1:g.109108C>T
• NM_001123383.1:c.2124C>T
• NM_001123384.2:c.2124C>T
• NM_001123385.2:c.2124C>TMANE SELECT
• NM_017745.6:c.2124C>T
• NP_001116855.1:p.Thr708=
• NP_001116856.1:p.Thr708=
• NP_001116857.1:p.Thr708=
• NP_060215.4:p.Thr708=
• LRG_627t1:c.2124C>T
• LRG_627t2:c.2124C>T
• LRG_627:g.109108C>T
• LRG_627p1:p.Thr708=
• NC_000023.10:g.39932475G>A
• NC_000023.10:g.39932475G>A
• NM_001123385.1:c.2124C>T
• NM_017745.5:c.2124C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs749386912

NCBI 1000 Genomes Browser:

rs749386912

Molecular consequence:

• NM_001123383.1:c.2124C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001123384.2:c.2124C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001123385.2:c.2124C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017745.6:c.2124C>T - synonymous variant - [Sequence Ontology: SO:0001819]