Variant #0000001545 (NC_000004.11:g.178354367C>A, AGA(NM_000027.3):c.940+1G>T)

Chromosome 4
Allele Both (homozygous)
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.178354367C>A
DNA change (hg38) g.177433213C>A
Published as GT-to-TT transversion at the splice donor site of intron 8
ISCN -
DB-ID AGA_000027
Variant remarks 1 African-American AGU patient (hom); Mutation almost completely eliminate splicing at the exon 8/intron 8 border and causes exon 8 skipping.
Reference PubMed: Fisher 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 +/+ 8i c.940+1G>T r.[=, 935_1068del] p.[=, 935_*27del]