ClinVar

NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser)

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: 62690402 (on Assembly GRCh38)
• Chr11: 62457874 (on Assembly GRCh37)

Preferred name:

NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser)

HGVS:

• NC_000011.10:g.62690402C>A
• NG_008461.1:g.24173G>T
• NG_033077.1:g.4498G>T
• NM_001122955.4:c.1354G>TMANE SELECT
• NM_001130702.2:c.*156G>T
• NM_001386027.1:c.1360G>T
• NM_001386028.1:c.1354G>T
• NM_032667.6:c.1162G>T
• NP_001116427.1:p.Ala452Ser
• NP_001372956.1:p.Ala454Ser
• NP_001372957.1:p.Ala452Ser
• NP_116056.3:p.Ala388Ser
• LRG_235t2:c.1162G>T
• LRG_235:g.24173G>T
• LRG_235p2:p.Ala388Ser
• NC_000011.9:g.62457874C>A
• NM_001122955.3:c.1354G>T
• NR_037946.1:n.3874G>T

This HGVS expression did not pass validation

Protein change:

A388S

Links:

dbSNP: rs1060503382

NCBI 1000 Genomes Browser:

rs1060503382

Molecular consequence:

• NM_001130702.2:c.*156G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001122955.4:c.1354G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386027.1:c.1360G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386028.1:c.1354G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032667.6:c.1162G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_037946.1:n.3874G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1