NM_014363.6(SACS):c.11116A>G (p.Ile3706Val) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001828667.1
Allele description [Variation Report for NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)]
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)
Condition(s)
-
serpin B9 isoform X2 [Homo sapiens]
serpin B9 isoform X2 [Homo sapiens]gi|767940201|ref|XP_011512980.1|Protein
-
Human serine proteinase inhibitor (P19) mRNA, complete cds
Human serine proteinase inhibitor (P19) mRNA, complete cdsgi|1613849|gb|U71364.1|HSU71364Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024