ClinVar

NM_000518.4(HBB):c.220G>A (p.Asp74Asn)

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: 5226672 (on Assembly GRCh38)
• Chr11: 5247902 (on Assembly GRCh37)

Preferred name:

NM_000518.4(HBB):c.220G>A (p.Asp74Asn)

Other names:

D73N

HGVS:

• NC_000011.10:g.5226672C>T
• NG_000007.3:g.70944G>A
• NG_042296.1:g.203C>T
• NG_046672.1:g.4607C>T
• NG_053049.1:g.2993C>T
• NG_059281.1:g.5400G>A
• NM_000518.5:c.220G>AMANE SELECT
• NP_000509.1:p.Asp74Asn
• LRG_1232t1:c.220G>A
• LRG_1232:g.5400G>A
• LRG_1232p1:p.Asp74Asn
• NC_000011.9:g.5247902C>T
• NM_000518.4:c.220G>A

This HGVS expression did not pass validation

Protein change:

D74N; ASP73ASN

Links:

HBVAR: 383; OMIM: 141900.0039; OMIM: 141900.0153; dbSNP: rs33945705

NCBI 1000 Genomes Browser:

rs33945705

Molecular consequence:

• NM_000518.5:c.220G>A - missense variant - [Sequence Ontology: SO:0001583]