ClinVar

NM_000558.5(HBA1):c.223G>A (p.Asp75Asn)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 177056 (on Assembly GRCh38)
• Chr16: 227055 (on Assembly GRCh37)

Preferred name:

NM_000558.5(HBA1):c.223G>A (p.Asp75Asn)

Other names:

D74N

HGVS:

• NC_000016.10:g.177056G>A
• NG_000006.1:g.37919G>A
• NG_046166.1:g.2539G>A
• NG_059186.1:g.5406G>A
• NM_000558.5:c.223G>AMANE SELECT
• NP_000549.1:p.Asp75Asn
• LRG_1225t1:c.223G>A
• LRG_1225:g.5406G>A
• LRG_1225p1:p.Asp75Asn
• NC_000016.9:g.227055G>A
• NM_000558.3:c.223G>A
• P69905:p.Asp75Asn

This HGVS expression did not pass validation

Protein change:

D75N; ASP74ASN

Links:

UniProtKB: P69905#VAR_002793; OMIM: 141800.0041; dbSNP: rs28928875

NCBI 1000 Genomes Browser:

rs28928875

Molecular consequence:

• NM_000558.5:c.223G>A - missense variant - [Sequence Ontology: SO:0001583]