Genomic variant #0000086578

Individual ID 00056382
Chromosome 4
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.145032547_145061788=
DNA change (hg38) -
Published as -
ISCN -
DB-ID GYPA_000000
Variant remarks encodes bloodgroup M (MNS system)
Reference PubMed: Huang 1993
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     
GYPA NM_002099.6 -/- _1_7_ c.= M - r.= p.=



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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