NM_004612.4(TGFBR1):c.1238G>A (p.Arg413Gln) AND Loeys-Dietz syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004005741.2
Allele description [Variation Report for NM_004612.4(TGFBR1):c.1238G>A (p.Arg413Gln)]
NM_004612.4(TGFBR1):c.1238G>A (p.Arg413Gln)
Condition(s)
-
Austrovenus stutchburyi voucher NZCOC013 cytochrome oxidase subunit 1 (COI) gene...
Austrovenus stutchburyi voucher NZCOC013 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|343184311|gnl|uoguelph|NZCOC013- I-5P|gb|JN201186.1|Nucleotide
-
Mus musculus sepiapterin reductase (Spr), mRNA
Mus musculus sepiapterin reductase (Spr), mRNAgi|160333788|ref|NM_011467.2|Nucleotide
-
GXYLT2 [Alligator mississippiensis]
GXYLT2 [Alligator mississippiensis]Gene ID:102575340Gene
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See more...Assertion and evidence details
Last Updated: May 7, 2024