ClinVar

NM_000518.4(HBB):c.238G>T (p.Asp80Tyr)

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: 5226654 (on Assembly GRCh38)
• Chr11: 5247884 (on Assembly GRCh37)

Preferred name:

NM_000518.4(HBB):c.238G>T (p.Asp80Tyr)

Other names:

D79Y

HGVS:

• NC_000011.10:g.5226654C>A
• NG_000007.3:g.70962G>T
• NG_042296.1:g.185C>A
• NG_046672.1:g.4589C>A
• NG_053049.1:g.2975C>A
• NG_059281.1:g.5418G>T
• NM_000518.5:c.238G>TMANE SELECT
• NP_000509.1:p.Asp80Tyr
• LRG_1232t1:c.238G>T
• LRG_1232:g.5418G>T
• LRG_1232p1:p.Asp80Tyr
• NC_000011.9:g.5247884C>A
• P68871:p.Asp80Tyr

This HGVS expression did not pass validation

Protein change:

D80Y; ASP79TYR

Links:

HBVAR: 399; UniProtKB: P68871#VAR_002983; OMIM: 141900.0281; dbSNP: rs33990858

NCBI 1000 Genomes Browser:

rs33990858

Molecular consequence:

• NM_000518.5:c.238G>T - missense variant - [Sequence Ontology: SO:0001583]