ClinVar

NM_001387567.1(BTBD6):c.1123C>T (p.Arg375Cys)

Genes:

BRF1:BRF1 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
BTBD6:BTB domain containing 6 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.33

Genomic location:

• Chr14: 105250178 (on Assembly GRCh38)
• Chr14: 105716515 (on Assembly GRCh37)

Preferred name:

NM_001387567.1(BTBD6):c.1123C>T (p.Arg375Cys)

HGVS:

• NC_000014.9:g.105250178C>T
• NG_029489.1:g.70400G>A
• NG_130396.1:g.538C>T
• NM_001242786.2:c.199+2329G>A
• NM_001242787.2:c.199+2329G>A
• NM_001242788.2:c.463+2329G>A
• NM_001387567.1:c.1123C>TMANE SELECT
• NM_001519.4:c.544+2329G>AMANE SELECT
• NM_033271.3:c.964C>T
• NP_001374496.1:p.Arg375Cys
• NP_150374.2:p.Arg322Cys
• NC_000014.8:g.105716515C>T
• NM_033271.2:c.964C>T

This HGVS expression did not pass validation

Protein change:

R322C

Molecular consequence:

• NM_001242786.2:c.199+2329G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242787.2:c.199+2329G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242788.2:c.463+2329G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001519.4:c.544+2329G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387567.1:c.1123C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033271.3:c.964C>T - missense variant - [Sequence Ontology: SO:0001583]