NM_004612.4(TGFBR1):c.*2833G>A AND Loeys-Dietz syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000398689.5
Allele description [Variation Report for NM_004612.4(TGFBR1):c.*2833G>A]
NM_004612.4(TGFBR1):c.*2833G>A
Condition(s)
-
Synthetic construct Mus musculus clone IMAGE:9093196 solute carrier family 12, m...
Synthetic construct Mus musculus clone IMAGE:9093196 solute carrier family 12, member 2 (Slc12a2) gene, partial cdsgi|211970163|gb|BC169287.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023