Individual #00056382

ID_report -
Reference PubMed: Huang 1993
Remarks -
Gender -
Consanguinity -
Country Denmark
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MN
Owner name Johan den Dunnen


Phenotypes

blood group system, MN locus (MN) (MN)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000042999 MNS red cell bloodgroup typing M- N+ S- s+, ERIK+, St(a+) - - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056337 DNA SEQ;Southern - - GYPA 2 Johan den Dunnen



Variants

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

Allele     

AscendingDNA 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     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
4 Parent #2 g.145032547_145061788= - - - GYPA_000000 encodes bloodgroup M (MNS system) PubMed: Huang 1993 - - Germline - - - 0 - Johan den Dunnen GYPA -/- - - - - - _1_7_ NM_002099.6:c.= M - r.= p.= - - - - - - - - - - - - - - - - - - - - - - -
4 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 - Johan den Dunnen GYPA +/+ - - - - - 3 NM_002099.6:c.232G>A ERIK;St(a) - r.[232g>a, 137_232del, 38_232del, 38_272del] p.[Gly78Arg, Asp46_Thr77del, Glu13_Thr77del, Ile14_Glu91del] - - - - - - - - - - - - - - - - - - - - - - -
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