NM_014363.6(SACS):c.7647T>G (p.Leu2549=) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Sep 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000310623.10
Allele description [Variation Report for NM_014363.6(SACS):c.7647T>G (p.Leu2549=)]
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
Condition(s)
-
Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAP...
Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), mRNAgi|14589907|ref|NM_004635.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024