GRCh37/hg19 5q15-22.3(chr5:93650000-114969108) AND not specified
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002053511.3
Allele description [Variation Report for GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)]
GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
RPS6KA3 ribosomal protein S6 kinase A3 [Homo sapiens]
RPS6KA3 ribosomal protein S6 kinase A3 [Homo sapiens]Gene ID:6197Gene
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Gene Links for GEO Profiles (Select 79786992) (1)
Gene
-
Intellectual developmental disorder with dysmorphic facies and ptosis
Intellectual developmental disorder with dysmorphic facies and ptosisMedGen
-
Trichothiodystrophy 1, photosensitive
Trichothiodystrophy 1, photosensitiveMedGen
-
Conserved Domain Links for Structure (Select 72183) (1)
Conserved Domains
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See more...Assertion and evidence details
Last Updated: Oct 14, 2023