Variant #0000001546 (NC_000004.11:g.178350942_178353110del, AGA(NM_000027.3):c.941-148_*1920del)

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178350942_178353110del
DNA change (hg38) g.177429788_177431956del
Published as -
ISCN -
DB-ID AGA_000028
Variant remarks 1 North American AGU patient
Reference PubMed: Jalanko et al. 1995
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +/+ 8i c.941-148_*1920del r.spl p.?