ClinVar

NM_000518.5(HBB):c.20A>T (p.Glu7Val)

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: 5227002 (on Assembly GRCh38)
• Chr11: 5248232 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.20A>T (p.Glu7Val)

Other names:

E6V; HbS

HGVS:

• NC_000011.10:g.5227002T>A
• NG_000007.3:g.70614A>T
• NG_042296.1:g.533T>A
• NG_046672.1:g.4937T>A
• NG_059281.1:g.5070A>T
• NM_000518.5:c.20A>TMANE SELECT
• NP_000509.1:p.Glu7Val
• NP_000509.1:p.Glu7Val
• LRG_1232t1:c.20A>T
• LRG_1232:g.5070A>T
• LRG_1232p1:p.Glu7Val
• NC_000011.9:g.5248232T>A
• NM_000518.4:c.20A>T
• P68871:p.Glu7Val

This HGVS expression did not pass validation

Protein change:

E7V; Glu6Val

Links:

Genetic Testing Registry (GTR): GTR000115629; Genetic Testing Registry (GTR): GTR000500319; UniProtKB: P68871#VAR_002863; OMIM: 141900.0039; OMIM: 141900.0040; OMIM: 141900.0243; OMIM: 141900.0244; OMIM: 141900.0245; OMIM: 141900.0246; OMIM: 141900.0247; OMIM: 141900.0521; OMIM: 141900.0523; dbSNP: rs334

NCBI 1000 Genomes Browser:

rs334

Molecular consequence:

• NM_000518.5:c.20A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1