NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg) AND Loeys-Dietz syndrome 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000983867.9
Allele description [Variation Report for NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg)]
NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg)
Condition(s)
- Name:
- Loeys-Dietz syndrome 2 (LDS2)
- Synonyms:
- Loeys-Dietz syndrome type 1B; MARFAN SYNDROME, TYPE II; Loeys-Dietz syndrome type 2B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012427; MedGen: C2674574; Orphanet: 558; OMIM: 610168
-
PREDICTED: Homo sapiens uncharacterized lncRNA (LOC105376553), ncRNA
PREDICTED: Homo sapiens uncharacterized lncRNA (LOC105376553), ncRNAgi|2217285909|ref|XR_931034.3|Nucleotide
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Last Updated: Sep 29, 2024