Full data view for gene GYPA

Information The variants shown are described using the NM_002099.6 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- _1_7_ c.= M - r.= p.= Parent #2 g.145032547_145061788= - - - GYPA_000000 encodes bloodgroup M (MNS system) PubMed: Huang 1993 - - Germline - - - 0 - DNA SEQ, Southern - - MN - PubMed: Huang 1993 - - - Denmark - - 0 - - 1 Johan den Dunnen
+/+ 3 c.232G>A ERIK;St(a) - r.[232g>a, 137_232del, 38_232del, 38_272del] p.[Gly78Arg, Asp46_Thr77del, Glu13_Thr77del, Ile14_Glu91del] Parent #1 g.145040839C>T g.144119686C>T - - GYPA_000001 transcript 1 defines ERIK, transcript 2 the St(a)-antigen (QTNGER) PubMed: Huang 1993, OMIM:var0001 - rs1800582 Germline yes - MspI- 0 - DNA SEQ, Southern - - MN - PubMed: Huang 1993 - - - Denmark - - 0 - - 1 Johan den Dunnen
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