NM_000428.3(LTBP2):c.*2569G>A AND Weill-Marchesani syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001118454.4
Allele description [Variation Report for NM_000428.3(LTBP2):c.*2569G>A]
NM_000428.3(LTBP2):c.*2569G>A
Condition(s)
-
Homo sapiens PTOV1 extended AT-hook containing adaptor protein (PTOV1), transcri...
Homo sapiens PTOV1 extended AT-hook containing adaptor protein (PTOV1), transcript variant 10, mRNAgi|2018536955|ref|NM_001394010.1|Nucleotide
-
pyrroline-5-carboxylate reductase-like, isoform CRA_b [Homo sapiens]
pyrroline-5-carboxylate reductase-like, isoform CRA_b [Homo sapiens]gi|119602630|gb|EAW82224.1||gnl|WGS |hCP45629Protein
-
30S ribosomal protein S14 type Z [Streptococcus pyogenes ABC020060777]
30S ribosomal protein S14 type Z [Streptococcus pyogenes ABC020060777]gi|611669277|gb|EZM47132.1||gnl|WGS |Z184_01553T0Protein
-
30S ribosomal protein S17 [Streptococcus pyogenes ABC020060777]
30S ribosomal protein S17 [Streptococcus pyogenes ABC020060777]gi|611669273|gb|EZM47128.1||gnl|WGS |Z184_01549T0Protein
-
Muscoidea 28S ribosomal RNA gene, partial sequence.
Muscoidea 28S ribosomal RNA gene, partial sequence.PopSet: 109894254PopSet
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 30, 2024