ClinVar

NM_000518.4(HBB):c.356T>A (p.Phe119Tyr)

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: 5225686 (on Assembly GRCh38)
• Chr11: 5246916 (on Assembly GRCh37)

Preferred name:

NM_000518.4(HBB):c.356T>A (p.Phe119Tyr)

Other names:

F118Y

HGVS:

• NC_000011.10:g.5225686A>T
• NG_000007.3:g.71930T>A
• NG_046672.1:g.3621A>T
• NG_053049.1:g.2007A>T
• NG_059281.1:g.6386T>A
• NM_000518.5:c.356T>AMANE SELECT
• NP_000509.1:p.Phe119Tyr
• LRG_1232t1:c.356T>A
• LRG_1232:g.6386T>A
• LRG_1232p1:p.Phe119Tyr
• NC_000011.9:g.5246916A>T

This HGVS expression did not pass validation

Protein change:

F119Y; PHE118TYR

Links:

HBVAR: 501; OMIM: 141900.0176; dbSNP: rs33928092

NCBI 1000 Genomes Browser:

rs33928092

Molecular consequence:

• NM_000518.5:c.356T>A - missense variant - [Sequence Ontology: SO:0001583]