ClinVar

NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)

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: 62692378 (on Assembly GRCh38)
• Chr11: 62459850 (on Assembly GRCh37)

Preferred name:

NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)

HGVS:

• NC_000011.10:g.62692378G>A
• NG_008461.1:g.22197C>T
• NG_033077.1:g.2522C>T
• NM_001122955.4:c.861C>TMANE SELECT
• NM_001130702.2:c.669C>T
• NM_001386027.1:c.861C>T
• NM_001386028.1:c.861C>T
• NM_032667.6:c.669C>T
• NP_001116427.1:p.Leu287=
• NP_001124174.2:p.Leu223=
• NP_001372956.1:p.Leu287=
• NP_001372957.1:p.Leu287=
• NP_116056.3:p.Leu223=
• LRG_235t2:c.669C>T
• LRG_235:g.22197C>T
• LRG_235p2:p.Leu223=
• NC_000011.9:g.62459850G>A
• NM_001122955.3:c.861C>T
• NR_037946.1:n.3381C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs370926100

NCBI 1000 Genomes Browser:

rs370926100

Molecular consequence:

• NR_037946.1:n.3381C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001122955.4:c.861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001130702.2:c.669C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386027.1:c.861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386028.1:c.861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032667.6:c.669C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3