NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002496373.8
Allele description [Variation Report for NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)]
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)
Condition(s)
- Name:
- Pachyonychia congenita 2 (PC2)
- Synonyms:
- Pachyonychia congenita Jackson Lawler type; Jackson-Lawler syndrome; PC-K17
- Identifiers:
- MONDO: MONDO:0008174; MedGen: C1721007; Orphanet: 2309; OMIM: 167210
- Name:
- Steatocystoma multiplex
- Synonyms:
- Multiple sebaceous cysts; Sebocystomatosis; Disseminated sebocystomatosis
- Identifiers:
- MONDO: MONDO:0008485; MedGen: C0259771; Orphanet: 841; OMIM: 184500; Human Phenotype Ontology: HP:0012035
-
Putative NADP-dependent oxidoreductase yfmJ [Bacillus subtilis PY79]
Putative NADP-dependent oxidoreductase yfmJ [Bacillus subtilis PY79]gi|558567297|gnl|LASimm|U712_03775| A76703.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024