ClinVar

NM_000518.4(HBB):c.71T>A (p.Val24Asp)

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: 5226951 (on Assembly GRCh38)
• Chr11: 5248181 (on Assembly GRCh37)

Preferred name:

NM_000518.4(HBB):c.71T>A (p.Val24Asp)

Other names:

V23D

HGVS:

• NC_000011.10:g.5226951A>T
• NG_000007.3:g.70665T>A
• NG_042296.1:g.482A>T
• NG_046672.1:g.4886A>T
• NG_059281.1:g.5121T>A
• NM_000518.5:c.71T>AMANE SELECT
• NP_000509.1:p.Val24Asp
• LRG_1232t1:c.71T>A
• LRG_1232:g.5121T>A
• LRG_1232p1:p.Val24Asp
• NC_000011.9:g.5248181A>T
• NM_000518.4:c.71T>A
• P68871:p.Val24Asp

This HGVS expression did not pass validation

Protein change:

V24D; VAL23ASP

Links:

HBVAR: 269; UniProtKB: P68871#VAR_002899; OMIM: 141900.0271; dbSNP: rs33945546

NCBI 1000 Genomes Browser:

rs33945546

Molecular consequence:

• NM_000518.5:c.71T>A - missense variant - [Sequence Ontology: SO:0001583]