ClinVar

NM_001122955.4(BSCL2):c.1234+4A>C

Genes:

BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
HNRNPUL2-BSCL2:HNRNPUL2-BSCL2 readthrough (NMD candidate) [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 62690608 (on Assembly GRCh38)
• Chr11: 62458080 (on Assembly GRCh37)

Preferred name:

NM_001122955.4(BSCL2):c.1234+4A>C

HGVS:

• NC_000011.10:g.62690608T>G
• NG_008461.1:g.23967A>C
• NG_033077.1:g.4292A>C
• NM_001122955.4:c.1234+4A>CMANE SELECT
• NM_001130702.2:c.*36+4A>C
• NM_001386027.1:c.1240+4A>C
• NM_001386028.1:c.1234+4A>C
• NM_032667.6:c.1042+4A>C
• LRG_235t2:c.1042+4A>C
• LRG_235:g.23967A>C
• NC_000011.9:g.62458080T>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001122955.4:c.1234+4A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001130702.2:c.*36+4A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386027.1:c.1240+4A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386028.1:c.1234+4A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_032667.6:c.1042+4A>C - intron variant - [Sequence Ontology: SO:0001627]