ClinVar

NM_000518.5(HBB):c.118C>G (p.Gln40Glu)

Genes:

LOC106099062:HBB recombination 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: 5226774 (on Assembly GRCh38)
• Chr11: 5248004 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.118C>G (p.Gln40Glu)

Other names:

Q39E; Hb Vaasa

HGVS:

• NC_000011.10:g.5226774G>C
• NG_000007.3:g.70842C>G
• NG_042296.1:g.305G>C
• NG_046672.1:g.4709G>C
• NG_059281.1:g.5298C>G
• NM_000518.5:c.118C>GMANE SELECT
• NP_000509.1:p.Gln40Glu
• LRG_1232t1:c.118C>G
• LRG_1232:g.5298C>G
• LRG_1232p1:p.Gln40Glu
• NC_000011.9:g.5248004G>C

This HGVS expression did not pass validation

Protein change:

Q40E; GLN39GLU

Links:

HBVAR: 308; OMIM: 141900.0290

Molecular consequence:

• NM_000518.5:c.118C>G - missense variant - [Sequence Ontology: SO:0001583]