ClinVar

NM_001123385.2(BCOR):c.831G>A (p.Pro277=)

Genes:

BCOR:BCL6 corepressor [Gene - OMIM - HGNC]
LOC126863239:MED14-independent group 3 enhancer GRCh37_chrX:39932994-39934193 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 40074515 (on Assembly GRCh38)
• ChrX: 39933768 (on Assembly GRCh37)

Preferred name:

NM_001123385.2(BCOR):c.831G>A (p.Pro277=)

HGVS:

• NC_000023.11:g.40074515C>T
• NG_008880.1:g.107815G>A
• NG_087735.1:g.875C>T
• NM_001123383.1:c.831G>A
• NM_001123384.2:c.831G>A
• NM_001123385.2:c.831G>AMANE SELECT
• NM_017745.6:c.831G>A
• NP_001116855.1:p.Pro277=
• NP_001116856.1:p.Pro277=
• NP_001116857.1:p.Pro277=
• NP_001116857.1:p.Pro277=
• NP_060215.4:p.Pro277=
• LRG_627t1:c.831G>A
• LRG_627t2:c.831G>A
• LRG_627:g.107815G>A
• LRG_627p1:p.Pro277=
• LRG_627p2:p.Pro277=
• NC_000023.10:g.39933768C>T
• NM_001123385.1:c.831G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001123383.1:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001123384.2:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001123385.2:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017745.6:c.831G>A - synonymous variant - [Sequence Ontology: SO:0001819]