NM_002968.3(SALL1):c.475A>G (p.Ser159Gly) AND Townes-Brocks syndrome 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 28, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002272195.2
Allele description [Variation Report for NM_002968.3(SALL1):c.475A>G (p.Ser159Gly)]
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly)
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
-
Tmem115 transmembrane protein 115 [Mus musculus]
Tmem115 transmembrane protein 115 [Mus musculus]Gene ID:56395Gene
-
56395[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024