NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) AND Autosomal dominant cerebellar ataxia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000323015.6
Allele description [Variation Report for NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)]
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)
Condition(s)
-
zinc finger protein ZFPM1 isoform X2 [Homo sapiens]
zinc finger protein ZFPM1 isoform X2 [Homo sapiens]gi|2462547741|ref|XP_054235679.1|Protein
-
Homo sapiens uncharacterized LOC101929319 (LOC101929319), long non-coding RNA
Homo sapiens uncharacterized LOC101929319 (LOC101929319), long non-coding RNAgi|573014846|ref|NR_110248.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024