NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) AND Alagille syndrome due to a JAG1 point mutation
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002519743.3
Allele description [Variation Report for NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter)]
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter)
Condition(s)
-
MULTISPECIES: UDP-galactopyranose mutase [Bifidobacterium]
MULTISPECIES: UDP-galactopyranose mutase [Bifidobacterium]gi|490329787|ref|WP_004219209.1|Protein
-
CR431883 XGC-tailbud Xenopus tropicalis cDNA clone TTbA055e09 5', mRNA sequence
CR431883 XGC-tailbud Xenopus tropicalis cDNA clone TTbA055e09 5', mRNA sequencegi|48925292|gnl|dbEST|23795885|emb| 883.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024