NM_001378454.1(ALMS1):c.8340A>C (p.Ser2780=) AND Alstrom syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003609473.2
Allele description [Variation Report for NM_001378454.1(ALMS1):c.8340A>C (p.Ser2780=)]
NM_001378454.1(ALMS1):c.8340A>C (p.Ser2780=)
Condition(s)
-
tyrosine-protein kinase receptor UFO isoform 1 precursor [Rattus norvegicus]
tyrosine-protein kinase receptor UFO isoform 1 precursor [Rattus norvegicus]gi|93204849|ref|NP_113982.1|Protein
-
Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 1, mRNA
Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 1, mRNAgi|1677530752|ref|NM_004788.4|Nucleotide
-
corepressor interacting with RBPJ 1 [Homo sapiens]
corepressor interacting with RBPJ 1 [Homo sapiens]gi|40068059|ref|NP_004873.3|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024