NM_001379081.2(FREM1):c.-476G>T AND Oculotrichoanal 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:
- RCV001166308.4
Allele description [Variation Report for NM_001379081.2(FREM1):c.-476G>T]
NM_001379081.2(FREM1):c.-476G>T
Condition(s)
- Name:
- Oculotrichoanal syndrome (MOTA)
- Synonyms:
- Marles Greenberg Persaud syndrome; Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies; Marles syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009560; MedGen: C1855425; OMIM: 248450
Assertion and evidence details
Last Updated: Apr 9, 2023