NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002482527.1
Allele description [Variation Report for NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)]
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)
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
-
photosystem II subunit N (chloroplast) [Makinoa crispata]
photosystem II subunit N (chloroplast) [Makinoa crispata]gi|327544002|gb|AEA96053.1|Protein
-
Chain C, KDA CHAPERONIN
Chain C, KDA CHAPERONINgi|15825765|pdb|1HX5|CProtein
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Last Updated: Sep 29, 2024