NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) AND Joubert syndrome 8
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001859504.5
Allele description [Variation Report for NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)]
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)
Condition(s)
-
2704221[uid] (1)
Taxonomy
-
protein FAM200C [Homo sapiens]
protein FAM200C [Homo sapiens]gi|28916698|ref|NP_071373.2|Protein
-
dc50g11.y1 NICHD_XGC_Emb3 Xenopus laevis cDNA clone IMAGE:3400533 5', mRNA seque...
dc50g11.y1 NICHD_XGC_Emb3 Xenopus laevis cDNA clone IMAGE:3400533 5', mRNA sequencegi|12695333|gnl|dbEST|7762557|gb|BG 4.1|Nucleotide
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Last Updated: Oct 20, 2024