ClinVar

NM_001122955.4(BSCL2):c.809G>A (p.Arg270His)

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: 62692430 (on Assembly GRCh38)
• Chr11: 62459902 (on Assembly GRCh37)

Preferred name:

NM_001122955.4(BSCL2):c.809G>A (p.Arg270His)

HGVS:

• NC_000011.10:g.62692430C>T
• NG_008461.1:g.22145G>A
• NG_033077.1:g.2470G>A
• NM_001122955.4:c.809G>AMANE SELECT
• NM_001130702.2:c.617G>A
• NM_001386027.1:c.809G>A
• NM_001386028.1:c.809G>A
• NM_032667.6:c.617G>A
• NP_001116427.1:p.Arg270His
• NP_001124174.2:p.Arg206His
• NP_001372956.1:p.Arg270His
• NP_001372957.1:p.Arg270His
• NP_116056.3:p.Arg206His
• LRG_235t2:c.617G>A
• LRG_235:g.22145G>A
• LRG_235p2:p.Arg206His
• NC_000011.9:g.62459902C>T
• NR_037946.1:n.3329G>A

This HGVS expression did not pass validation

Protein change:

R206H

Links:

dbSNP: rs763884653

NCBI 1000 Genomes Browser:

rs763884653

Molecular consequence:

• NM_001122955.4:c.809G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130702.2:c.617G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386027.1:c.809G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386028.1:c.809G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032667.6:c.617G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_037946.1:n.3329G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1