Screening #0000056337

Individual ID 00056382
Template DNA
Technique SEQ;Southern
Tissue -
Remarks -
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
GYPA glycophorin A (MNS blood group) 4 q31.21 1 2 2 2015-12-17 MLRS, MN



Variants found

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

Chr     

Allele     

Effect     

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     

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     

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 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] - - - - - - - - - - - - - - - - - - -
Legend