ClinVar

NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)

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: 62691346 (on Assembly GRCh38)
• Chr11: 62458818 (on Assembly GRCh37)

Preferred name:

NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)

HGVS:

• NC_000011.10:g.62691346G>A
• NG_008461.1:g.23229C>T
• NG_033077.1:g.3554C>T
• NM_001122955.4:c.939C>TMANE SELECT
• NM_001130702.2:c.672-205C>T
• NM_001386027.1:c.939C>T
• NM_001386028.1:c.939C>T
• NM_032667.6:c.747C>T
• NP_001116427.1:p.Ile313=
• NP_001372956.1:p.Ile313=
• NP_001372957.1:p.Ile313=
• NP_116056.3:p.Ile249=
• LRG_235t2:c.747C>T
• LRG_235:g.23229C>T
• LRG_235p2:p.Ile249=
• NC_000011.9:g.62458818G>A
• NM_001122955.2:c.939C>T
• NR_037946.1:n.3459C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200300686

NCBI 1000 Genomes Browser:

rs200300686

Molecular consequence:

• NM_001130702.2:c.672-205C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_037946.1:n.3459C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001122955.4:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386027.1:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001386028.1:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032667.6:c.747C>T - synonymous variant - [Sequence Ontology: SO:0001819]