p.Q310X
This variant is mentioned in the text as not having been found in the Han Chinese.
3 Matching Annotations
- Last 7 days
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
(2) utilization of a cryptic splice site for Gln310-->Ter.
PVS1 evidence: RT-PCR showed a doublet "with the upper band slightly larger than the normal band (505bp). Sequence analysis demonstrated an admixture of species with 28nt of intronic sequence, indicating use of a cryptic splice site in intron 5." "This alternative splicing creates a frameshift and an open reading frame until exon 9"
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
rs121965023
This SNP is mentioned as clinically relevant for MPS I, but no patient data is reported.
-