NM_003738.5(PTCH2):c.3294G>A (p.Leu1098=) AND Gorlin syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003610121.1
Allele description [Variation Report for NM_003738.5(PTCH2):c.3294G>A (p.Leu1098=)]
NM_003738.5(PTCH2):c.3294G>A (p.Leu1098=)
Condition(s)
- Name:
- Gorlin syndrome
- Synonyms:
- Gorlin-Goltz Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; Fifth Phacomatosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007187; MedGen: C0004779; Orphanet: 377; OMIM: PS109400
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Chromosome neighbors for GEO Profiles (Select 104817477) (19)
GEO Profiles
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Gene Links for GEO Profiles (Select 65002438) (1)
Gene
-
ATP2B1 ATPase plasma membrane Ca2+ transporting 1 [Homo sapiens]
ATP2B1 ATPase plasma membrane Ca2+ transporting 1 [Homo sapiens]Gene ID:490Gene
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PREDICTED: Homo sapiens ZFP90 zinc finger protein (ZFP90), transcript variant X5...
PREDICTED: Homo sapiens ZFP90 zinc finger protein (ZFP90), transcript variant X5, mRNAgi|2217304716|ref|XM_047433640.1|Nucleotide
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Model for Wilms tumor of the kidney: time course
Model for Wilms tumor of the kidney: time courseAccession: GDS5415GEO DataSets
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Last Updated: Feb 28, 2024