NM_003664.5(AP3B1):c.1816C>T (p.Leu606=) AND Hermansky-Pudlak syndrome 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003037827.3
Allele description [Variation Report for NM_003664.5(AP3B1):c.1816C>T (p.Leu606=)]
NM_003664.5(AP3B1):c.1816C>T (p.Leu606=)
Condition(s)
-
DUF6922 domain-containing protein [Caldicellulosiruptor hydrothermalis]
DUF6922 domain-containing protein [Caldicellulosiruptor hydrothermalis]gi|503169340|ref|WP_013404001.1|Protein
-
MULTISPECIES: cyclic-di-AMP receptor [Clostridia]
MULTISPECIES: cyclic-di-AMP receptor [Clostridia]gi|503036809|ref|WP_013271785.1|Protein
-
mogroside IE synthase isoform X4 [Arachis duranensis]
mogroside IE synthase isoform X4 [Arachis duranensis]gi|2338599771|ref|XP_052116269.1|Protein
-
protein ABHD14A isoform b [Mus musculus]
protein ABHD14A isoform b [Mus musculus]gi|1758362348|ref|NP_001361588.1|Protein
-
Meriones unguiculatus akr-L3 mRNA for aldo-keto reductase type L3 complete cds
Meriones unguiculatus akr-L3 mRNA for aldo-keto reductase type L3 complete cdsgi|116062054|dbj|AB074123.1|Nucleotide
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Last Updated: Sep 29, 2024