NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs) AND Alstrom syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001384630.4
Allele description [Variation Report for NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs)]
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs)
Condition(s)
-
ferritin, mitochondrial [Balaenoptera acutorostrata]
ferritin, mitochondrial [Balaenoptera acutorostrata]gi|594681729|ref|XP_007188533.1|Protein
-
CCNB2 cyclin B2 [Homo sapiens]
CCNB2 cyclin B2 [Homo sapiens]Gene ID:9133Gene
-
Gene Links for GEO Profiles (Select 39262254) (1)
Gene
-
Endometriosis
EndometriosisAccession: GDS2737GEO DataSets
-
Related DataSets for GEO Profiles (Select 39262138) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024