NM_001083962.2(TCF4):c.1147-3C>T AND Pitt-Hopkins syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002706126.3
Allele description [Variation Report for NM_001083962.2(TCF4):c.1147-3C>T]
NM_001083962.2(TCF4):c.1147-3C>T
Condition(s)
- Name:
- Pitt-Hopkins syndrome (PTHS)
- Synonyms:
- ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION; MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION; Mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea
- Identifiers:
- MONDO: MONDO:0012589; MedGen: C1970431; Orphanet: 2896; OMIM: 610954
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Acknowledgments - NTP Technical Report on the Toxicity Studies of Trans-resverat...
Acknowledgments - NTP Technical Report on the Toxicity Studies of Trans-resveratrol (CASRN 501-36-0) Administered by Gavage for Two Weeks or Three Months to F344/NTac Rats, Wistar Han [Crl:WI(Han)] Rats, and B6C3F1/N Mice
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uncharacterized protein LOC73176 [Mus musculus]
uncharacterized protein LOC73176 [Mus musculus]gi|1732428755|ref|NP_001359284.1|Protein
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antitoxin VbhA family protein (plasmid) [Klebsiella pneumoniae]
antitoxin VbhA family protein (plasmid) [Klebsiella pneumoniae]gi|1987964655|gnl|PRJNA231221|I6K60 0|gb|QRS44018.1|Protein
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Pseudomonas sp. S1ID14 16S ribosomal RNA gene, partial sequence
Pseudomonas sp. S1ID14 16S ribosomal RNA gene, partial sequencegi|333973168|gb|JF743687.1|Nucleotide
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Pseudomonas sp. S1ID6 16S ribosomal RNA gene, partial sequence
Pseudomonas sp. S1ID6 16S ribosomal RNA gene, partial sequencegi|333973165|gb|JF743684.1|Nucleotide
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Last Updated: Sep 29, 2024