NM_001174150.2(ARL13B):c.60A>G (p.Arg20=) AND Joubert syndrome 8
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001337360.3
Allele description [Variation Report for NM_001174150.2(ARL13B):c.60A>G (p.Arg20=)]
NM_001174150.2(ARL13B):c.60A>G (p.Arg20=)
Condition(s)
-
AV006463 Mus musculus 18-day embryo C57BL/6J Mus musculus cDNA clone 1100001G20,...
AV006463 Mus musculus 18-day embryo C57BL/6J Mus musculus cDNA clone 1100001G20, mRNA sequencegi|4783450|gnl|dbEST|2501108|dbj|AV 3.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024