NM_000195.5(HPS1):c.766C>T (p.Gln256Ter) AND Hermansky-Pudlak syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003468363.1
Allele description [Variation Report for NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)]
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)
Condition(s)
-
GPRASP3 G protein-coupled receptor associated sorting protein family member 3 [H...
GPRASP3 G protein-coupled receptor associated sorting protein family member 3 [Homo sapiens]Gene ID:80823Gene
-
Gene Links for GEO Profiles (Select 45784998) (1)
Gene
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TCEAL1 transcription elongation factor A like 1 [Homo sapiens]
TCEAL1 transcription elongation factor A like 1 [Homo sapiens]Gene ID:9338Gene
-
Gene Links for GEO Profiles (Select 45806574) (1)
Gene
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Last Updated: Dec 30, 2023