ClinVar

NM_000518.5(HBB):c.394C>T (p.Gln132Ter)

Genes:

LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 5225648 (on Assembly GRCh38)
• Chr11: 5246878 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.394C>T (p.Gln132Ter)

Other names:

CD 131 (CAG>TAG)

HGVS:

• NC_000011.10:g.5225648G>A
• NG_000007.3:g.71968C>T
• NG_046672.1:g.3583G>A
• NG_053049.1:g.1969G>A
• NG_059281.1:g.6424C>T
• NM_000518.5:c.394C>TMANE SELECT
• NP_000509.1:p.Gln132Ter
• LRG_1232t1:c.394C>T
• LRG_1232:g.6424C>T
• LRG_1232p1:p.Gln132Ter
• NC_000011.9:g.5246878G>A

This HGVS expression did not pass validation

Protein change:

Q132*

Links:

dbSNP: rs33910209

NCBI 1000 Genomes Browser:

rs33910209

Molecular consequence:

• NM_000518.5:c.394C>T - nonsense - [Sequence Ontology: SO:0001587]