Variant #0000001496 (NC_000004.11:g.178363422_178363428del, AGA(NM_000027.3):c.102_108del)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178363422_178363428del
DNA change (hg38) g.177442268_177442274del
Published as 7-bp deletion (nt 102-108)
ISCN -
DB-ID AGA_000003
Variant remarks 1 English AGU patient (het) + 2 English sibs (het) with AGU
Reference PubMed: Ikonen et al. 1991, PubMed: Park et al. 1993
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 +/+ 1 c.102_108del r.102_108delgcccuuu p.Trp34*