NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000755049.8
Allele description [Variation Report for NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)]
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
Condition(s)
- Name:
- Ataxia _ Neurologic (child onset)
- Identifiers:
- MedGen: CN232488
- Name:
- Non-progressive congenital cerebellar ataxia
- Identifiers:
-
CD300LF CD300 molecule like family member f [Homo sapiens]
CD300LF CD300 molecule like family member f [Homo sapiens]Gene ID:146722Gene
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Gene Links for Protein (Select 2462553254) (1)
Gene
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PopSet Links for Nucleotide (Select 1352707400) (1)
PopSet
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Saccharomycetales internal transcribed spacer 1, partial sequence; 5.8S ribosoma...
Saccharomycetales internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence.PopSet: 1352707398PopSet
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Taxonomy Links for Protein (Select 874573544) (1)
Taxonomy
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Last Updated: May 19, 2024