NM_001032283.3(TMPO):c.279+14dup AND Loeys-Dietz syndrome 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002146803.5
Allele description [Variation Report for NM_001032283.3(TMPO):c.279+14dup]
NM_001032283.3(TMPO):c.279+14dup
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 DDB1 and CUL4 associated factor 5 (DCAF5), transcript va...
PREDICTED: Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), transcript variant X1, mRNAgi|2217298720|ref|XM_006720297.3|Nucleotide
-
Beta proteobacterium Wuba68 16S ribosomal RNA gene, partial sequence
Beta proteobacterium Wuba68 16S ribosomal RNA gene, partial sequencegi|13398492|gb|AF336359.1|AF336359Nucleotide
-
"Calcaneovalgus deformity"[Clinical Features] OR 395489[uid] (12)
MedGen
-
Homo sapiens hypothetical gene LOC401431 (LOC401431), mRNA
Homo sapiens hypothetical gene LOC401431 (LOC401431), mRNAgi|56847621|ref|NM_001008745.1|Nucleotide
-
txid489757[Organism:noexp] (1)
Identical Protein Groups
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024