NM_003242.6(TGFBR2):c.1197G>A (p.Gly399=) AND Loeys-Dietz syndrome 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004016554.2
Allele description [Variation Report for NM_003242.6(TGFBR2):c.1197G>A (p.Gly399=)]
NM_003242.6(TGFBR2):c.1197G>A (p.Gly399=)
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
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Homo sapiens GRIP and coiled-coil domain containing 1, mRNA (cDNA clone MGC:2070...
Homo sapiens GRIP and coiled-coil domain containing 1, mRNA (cDNA clone MGC:20706 IMAGE:2988591), complete cdsgi|33878491|gb|BC014100.2|Nucleotide
-
Tilletia asperifolia (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: May 7, 2024