Variant #0000001522 (NC_000004.11:g.178363402_178363403insCCGCAT, AGA(NM_000027.3):c.127_128insATGCGG)

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.178363402_178363403insCCGCAT
DNA change (hg38) -
Published as ins 6 bp after G127
ISCN -
DB-ID AGA_000004
Variant remarks 1 Tunisian AGU patient; Inserted ATGCGG sequence is not found in normal intron 01, changes in intron 01 leading to this insertion are unknown
Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference PubMed: Ikonen et al. 1991
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 +/+ 1-2 c.127_128insATGCGG c.127_127+1insATGCGG p.Ala42_Ala43insAspAla