Genomic variant #0000086577

Individual ID 00056382
Chromosome 4
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.145040839C>T
DNA change (hg38) g.144119686C>T
Published as -
ISCN -
DB-ID GYPA_000001
Variant remarks transcript 1 defines ERIK, transcript 2 the St(a)-antigen (QTNGER)
Reference PubMed: Huang 1993, OMIM:var0001
ClinVar ID -
dbSNP ID rs1800582
Origin Germline
Segregation yes
Frequency -
Re-site MspI-
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 +/+ 3 c.232G>A ERIK;St(a) - r.[232g>a, 137_232del, 38_232del, 38_272del] p.[Gly78Arg, Asp46_Thr77del, Glu13_Thr77del, Ile14_Glu91del]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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