NM_181486.4(TBX5):c.*1373G>T AND Holt-Oram syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000309364.5
Allele description [Variation Report for NM_181486.4(TBX5):c.*1373G>T]
NM_181486.4(TBX5):c.*1373G>T
Condition(s)
- Name:
- Holt-Oram syndrome (HOS)
- Synonyms:
- Ventriculo-radial syndrome; Atrio digital syndrome; Cardiac-limb syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007732; MedGen: C0265264; Orphanet: 392; OMIM: 142900
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C0403399[trait identifier] AND "Juha Muilu Group; Institute for M... (109)
C0403399[trait identifier] AND "Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)"[submitter]SearchClinVar
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paralemmin-1 [Rattus norvegicus]
paralemmin-1 [Rattus norvegicus]gi|18677765|ref|NP_570842.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023