ClinVar

NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu)

Genes:

BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
GNG3:G protein subunit gamma 3 [Gene - OMIM - HGNC]
HNRNPUL2-BSCL2:HNRNPUL2-BSCL2 readthrough (NMD candidate) [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

• Chr11: 62707134 (on Assembly GRCh38)
• Chr11: 62474606 (on Assembly GRCh37)

Preferred name:

NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu)

HGVS:

• NC_000011.10:g.62707134T>A
• NG_008461.1:g.7441A>T
• NM_001122955.4:c.62A>TMANE SELECT
• NM_001386027.1:c.62A>T
• NM_001386028.1:c.62A>T
• NM_032667.6:c.-1037A>T
• NP_001116427.1:p.Gln21Leu
• NP_001372956.1:p.Gln21Leu
• NP_001372957.1:p.Gln21Leu
• LRG_235t2:c.-1037A>T
• LRG_235:g.7441A>T
• NC_000011.9:g.62474606T>A
• NM_001122955.3:c.62A>T
• NR_037946.1:n.2582A>T

This HGVS expression did not pass validation

Protein change:

Q21L

Links:

dbSNP: rs1006065298

NCBI 1000 Genomes Browser:

rs1006065298

Molecular consequence:

• NM_032667.6:c.-1037A>T - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
• NM_001122955.4:c.62A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386027.1:c.62A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386028.1:c.62A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_037946.1:n.2582A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]