NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile) AND Alstrom syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003061863.3
Allele description [Variation Report for NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)]
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
Condition(s)
-
Kury-Isidor syndrome
Kury-Isidor syndromeMedGen
-
Links from autonomous proteins to species level organisms for Pro... (2)
Links from autonomous proteins to species level organisms for Protein (Select 752685849)SearchTaxonomy
-
RBM15B RNA binding motif protein 15B [Homo sapiens]
RBM15B RNA binding motif protein 15B [Homo sapiens]Gene ID:29890Gene
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Gene Links for GEO Profiles (Select 10453456) (1)
Gene
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Tumor necrosis factor effect in the absence of NF-kappaB activity: time course
Tumor necrosis factor effect in the absence of NF-kappaB activity: time courseAccession: GDS1212GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024