NM_001371928.1(AHDC1):c.1536C>T (p.Arg512=) AND AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002253688.1
Allele description [Variation Report for NM_001371928.1(AHDC1):c.1536C>T (p.Arg512=)]
NM_001371928.1(AHDC1):c.1536C>T (p.Arg512=)
Condition(s)
-
Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), transcript varian...
Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), transcript variant 3, mRNAgi|1446042968|ref|NM_001365265.1|Nucleotide
-
Mus musculus actin-like 6A (Actl6a), mRNA
Mus musculus actin-like 6A (Actl6a), mRNAgi|9789892|ref|NM_019673.1|Nucleotide
-
actin-like protein 6A [Mus musculus]
actin-like protein 6A [Mus musculus]gi|189181668|ref|NP_062647.2|Protein
-
Homo sapiens CGI-52 protein mRNA, complete cds
Homo sapiens CGI-52 protein mRNA, complete cdsgi|4929572|gb|AF151810.1|Nucleotide
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Last Updated: Sep 29, 2024