NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 8, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000578263.5
Allele description [Variation Report for NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter)]
NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter)
Condition(s)
-
Mus musculus dihydrolipoamide dehydrogenase (Dld), mRNA
Mus musculus dihydrolipoamide dehydrogenase (Dld), mRNAgi|6681188|ref|NM_007861.1|Nucleotide
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Last Updated: Jun 23, 2024