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 (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Anne Polvi |

Variant on transcripts
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