NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Loeys-Dietz syndrome 2
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001094866.7
Allele description [Variation Report for NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)]
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)
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
-
HLA-B-associated transcript 1A [Mus musculus]
HLA-B-associated transcript 1A [Mus musculus]gi|22137623|gb|AAH24859.1|Protein
-
Mus musculus Smad nuclear interacting protein 1, mRNA (cDNA clone MGC:73648 IMAG...
Mus musculus Smad nuclear interacting protein 1, mRNA (cDNA clone MGC:73648 IMAGE:949686), complete cdsgi|39850205|gb|BC064067.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024