NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) AND Connective tissue disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000660269.8
Allele description [Variation Report for NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)]
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
-
Pif1/Rrm3 DNA helicase-like protein [Mus musculus]
Pif1/Rrm3 DNA helicase-like protein [Mus musculus]gi|45789845|gb|AAS77397.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 18, 2024