ClinVar

NM_000518.4(HBB):c.283G>A (p.Asp95Asn)

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: 5226609 (on Assembly GRCh38)
• Chr11: 5247839 (on Assembly GRCh37)

Preferred name:

NM_000518.4(HBB):c.283G>A (p.Asp95Asn)

Other names:

D94N

HGVS:

• NC_000011.10:g.5226609C>T
• NG_000007.3:g.71007G>A
• NG_042296.1:g.140C>T
• NG_046672.1:g.4544C>T
• NG_053049.1:g.2930C>T
• NG_059281.1:g.5463G>A
• NM_000518.5:c.283G>AMANE SELECT
• NP_000509.1:p.Asp95Asn
• LRG_1232t1:c.283G>A
• LRG_1232:g.5463G>A
• LRG_1232p1:p.Asp95Asn
• NC_000011.9:g.5247839C>T
• NM_000518.4:c.283G>A
• P68871:p.Asp95Asn

This HGVS expression did not pass validation

Protein change:

D95N; ASP94ASN

Links:

HBVAR: 437; UniProtKB: P68871#VAR_003008; OMIM: 141900.0035; dbSNP: rs33959340

NCBI 1000 Genomes Browser:

rs33959340

Molecular consequence:

• NM_000518.5:c.283G>A - missense variant - [Sequence Ontology: SO:0001583]