NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Feb 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000409460.5
Allele description [Variation Report for NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)]
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
Condition(s)
-
Transcriptome-wide mapping reveals widespread dynamic regulated pseudouridylatio...
Transcriptome-wide mapping reveals widespread dynamic regulated pseudouridylation of mRNATranscriptome-wide mapping reveals widespread dynamic regulated pseudouridylation of mRNABioProject
-
Mus musculus pancreas specific transcription factor, 1a (Ptf1a), mRNA
Mus musculus pancreas specific transcription factor, 1a (Ptf1a), mRNAgi|224967076|ref|NM_018809.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024