ClinVar

NM_000518.5(HBB):c.153del (p.Pro52fs)

Genes:

LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

Deletion

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 5226739 (on Assembly GRCh38)
• Chr11: 5247969 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.153del (p.Pro52fs)

Other names:

CD 50 (-T)

HGVS:

• NC_000011.10:g.5226739del
• NG_000007.3:g.70877del
• NG_042296.1:g.270del
• NG_046672.1:g.4674del
• NG_059281.1:g.5333del
• NM_000518.5:c.153delMANE SELECT
• NP_000509.1:p.Pro52fs
• LRG_1232t1:c.153del
• LRG_1232:g.5333del
• LRG_1232p1:p.Pro52fs
• NC_000011.9:g.5247969del

This HGVS expression did not pass validation

Protein change:

P52fs

Links:

dbSNP: rs1847561978

NCBI 1000 Genomes Browser:

rs1847561978

Molecular consequence:

• NM_000518.5:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]