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)
-
interferon-induced protein with tetratricopeptide repeats 1 isoform 3 [Homo sapi...
interferon-induced protein with tetratricopeptide repeats 1 isoform 3 [Homo sapiens]gi|400286383|ref|NP_001257858.1|Protein
-
Metagenome or environmental sample from Arcobacter sp. EP1
Metagenome or environmental sample from Arcobacter sp. EP1biosample
-
PREDICTED: Mauremys reevesii prosaposin (LOC120369467), transcript variant X2, m...
PREDICTED: Mauremys reevesii prosaposin (LOC120369467), transcript variant X2, mRNAgi|1985396065|ref|XM_039482800.1|Nucleotide
-
UBX domain-containing protein 2A [Mus musculus]
UBX domain-containing protein 2A [Mus musculus]gi|21703880|ref|NP_663416.1|Protein
-
NADH dehydrogenase subunit 1, partial (mitochondrion) [Corilla erronea]
NADH dehydrogenase subunit 1, partial (mitochondrion) [Corilla erronea]gi|1131110020|gb|APU54023.1|Protein
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Last Updated: Sep 29, 2024