NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) AND Cutis laxa
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Aug 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000779237.5
Allele description [Variation Report for NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)]
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)
Condition(s)
- Name:
- Cutis laxa
- Identifiers:
- MONDO: MONDO:0016175; MedGen: C0010495; Human Phenotype Ontology: HP:0000973
-
synaptonemal complex central element protein 1-like isoform 2 [Mus musculus]
synaptonemal complex central element protein 1-like isoform 2 [Mus musculus]gi|114326487|ref|NP_083415.1|Protein
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Last Updated: Jun 23, 2024