ClinVar

NM_000518.4(HBB):c.68A>T (p.Glu23Val)

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: 5226954 (on Assembly GRCh38)
• Chr11: 5248184 (on Assembly GRCh37)

Preferred name:

NM_000518.4(HBB):c.68A>T (p.Glu23Val)

Other names:

E22V

HGVS:

• NC_000011.10:g.5226954T>A
• NG_000007.3:g.70662A>T
• NG_042296.1:g.485T>A
• NG_046672.1:g.4889T>A
• NG_059281.1:g.5118A>T
• NM_000518.5:c.68A>TMANE SELECT
• NP_000509.1:p.Glu23Val
• LRG_1232t1:c.68A>T
• LRG_1232:g.5118A>T
• LRG_1232p1:p.Glu23Val
• NC_000011.9:g.5248184T>A
• NM_000518.4:c.68A>T
• P68871:p.Glu23Val

This HGVS expression did not pass validation

Protein change:

E23V; GLU22VAL

Links:

HBVAR: 268; UniProtKB: P68871#VAR_002898; OMIM: 141900.0061; dbSNP: rs33936254

NCBI 1000 Genomes Browser:

rs33936254

Molecular consequence:

• NM_000518.5:c.68A>T - missense variant - [Sequence Ontology: SO:0001583]