NM_000441.2(SLC26A4):c.1149+3A>G AND Pendred syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 14, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001831648.1
Allele description [Variation Report for NM_000441.2(SLC26A4):c.1149+3A>G]
NM_000441.2(SLC26A4):c.1149+3A>G
Condition(s)
- Name:
- Pendred syndrome (PDS)
- Synonyms:
- DEAFNESS WITH GOITER; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600
-
nebulette isoform 5 [Homo sapiens]
nebulette isoform 5 [Homo sapiens]gi|1789691051|ref|NP_001364252.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024