ClinVar

NM_000518.4(HBB):c.302C>T (p.Pro101Leu)

Genes:

LOC106099062:HBB recombination region [Gene]
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: 5226590 (on Assembly GRCh38)
• Chr11: 5247820 (on Assembly GRCh37)

Preferred name:

NM_000518.4(HBB):c.302C>T (p.Pro101Leu)

Other names:

P100L

HGVS:

• NC_000011.10:g.5226590G>A
• NG_000007.3:g.71026C>T
• NG_042296.1:g.121G>A
• NG_046672.1:g.4525G>A
• NG_053049.1:g.2911G>A
• NG_059281.1:g.5482C>T
• NM_000518.5:c.302C>TMANE SELECT
• NP_000509.1:p.Pro101Leu
• LRG_1232t1:c.302C>T
• LRG_1232:g.5482C>T
• LRG_1232p1:p.Pro101Leu
• NC_000011.9:g.5247820G>A
• P68871:p.Pro101Leu

This HGVS expression did not pass validation

Protein change:

P101L; PRO100LEU

Links:

HBVAR: 459; UniProtKB: P68871#VAR_003019; OMIM: 141900.0028; dbSNP: rs33965000

NCBI 1000 Genomes Browser:

rs33965000

Molecular consequence:

• NM_000518.5:c.302C>T - missense variant - [Sequence Ontology: SO:0001583]