NM_002968.2(SALL1):c.3711T>C (p.Tyr1237=) AND Townes-Brocks syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000400930.1
Allele description
NM_002968.2(SALL1):c.3711T>C (p.Tyr1237=)
Condition(s)
- Name:
- Townes-Brocks syndrome 1 (TBS1)
- Synonyms:
- DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES; Renal-ear-anal-radial syndrome; Anus, imperforate, with hand, foot and ear anomalies; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0054581; MedGen: C4551481; Orphanet: 857; OMIM: 107480
Assertion and evidence details
Last Updated: Apr 18, 2020