NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs) AND Branchiooculofacial syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 15, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001270676.2
Allele description [Variation Report for NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)]
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)
Condition(s)
- Name:
- Branchiooculofacial syndrome (BOFS)
- Synonyms:
- BOF SYNDROME; BOFS syndrome; Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007235; MeSH: D019280; MedGen: C0376524; Orphanet: 1297; OMIM: 113620
-
pentatricopeptide repeat-containing protein At1g71060, mitochondrial [Momordica ...
pentatricopeptide repeat-containing protein At1g71060, mitochondrial [Momordica charantia]gi|1229797255|ref|XP_022152343.1|Protein
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See more...Assertion and evidence details
Last Updated: Jan 26, 2024