NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) AND Pili torti-deafness syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001527285.2
Allele description [Variation Report for NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)]
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)
Condition(s)
- Name:
- Pili torti-deafness syndrome (BJS)
- Synonyms:
- Bjornstad syndrome; Pili torti and nerve deafness; Pili torti-sensorineural hearing loss; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009872; MedGen: C0266006; Orphanet: 123; OMIM: 262000
Assertion and evidence details
Last Updated: Feb 28, 2024