NM_017671.5(FERMT1):c.*2250C>T AND Kindler syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000336620.5
Allele description [Variation Report for NM_017671.5(FERMT1):c.*2250C>T]
NM_017671.5(FERMT1):c.*2250C>T
Condition(s)
- Name:
- Kindler syndrome (KNDLRS)
- Synonyms:
- Hereditary acrokeratotic poikiloderma of Weary; Poikiloderma of Kindler; Poikiloderma, hereditary acrokeratotic; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008260; MedGen: C0406557; Orphanet: 306539; OMIM: 173650
Assertion and evidence details
Last Updated: Apr 9, 2023