NM_000396.4(CTSK):c.578G>A (p.Arg193Gln) AND Pyknodysostosis
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002499016.2
Allele description [Variation Report for NM_000396.4(CTSK):c.578G>A (p.Arg193Gln)]
NM_000396.4(CTSK):c.578G>A (p.Arg193Gln)
Condition(s)
-
Arabidopsis thaliana catalytics (AT1G74790), mRNA
Arabidopsis thaliana catalytics (AT1G74790), mRNAgi|1063692733|ref|NM_106137.5|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 28, 2023