NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) AND Joubert syndrome 17
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- May 31, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000034938.10
Allele description [Variation Report for NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)]
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)
Condition(s)
-
Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 5, mRNA
Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 5, mRNAgi|1918495844|ref|NM_001242639.2|Nucleotide
-
Mus musculus sirtuin 7 (silent mating type information regulation 2, homolog) 7 ...
Mus musculus sirtuin 7 (silent mating type information regulation 2, homolog) 7 (S. cerevisiae), mRNA (cDNA clone IMAGE:5695648), with apparent retained introngi|51480413|gb|BC080304.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024