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) 1.0E-5 View details
Owner Anne Polvi
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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]