NM_000463.3(UGT1A1):c.1022G>A (p.Arg341Gln) AND Gilbert syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002221166.1
Allele description [Variation Report for NM_000463.3(UGT1A1):c.1022G>A (p.Arg341Gln)]
NM_000463.3(UGT1A1):c.1022G>A (p.Arg341Gln)
Condition(s)
- Name:
- Gilbert syndrome
- Synonyms:
- HYPERBILIRUBINEMIA I; HYPERBILIRUBINEMIA, ARIAS TYPE; Gilbert Disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007745; MedGen: C0017551; OMIM: 143500
-
Homo sapiens protein arginine methyltransferase 8, mRNA (cDNA clone MGC:26069 IM...
Homo sapiens protein arginine methyltransferase 8, mRNA (cDNA clone MGC:26069 IMAGE:4796524), complete cdsgi|18490668|gb|BC022458.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024