NM_000441.2(SLC26A4):c.*351G>A AND Pendred syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001165032.4
Allele description [Variation Report for NM_000441.2(SLC26A4):c.*351G>A]
NM_000441.2(SLC26A4):c.*351G>A
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
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Protein Links for Gene (Select 201232) (7)
Protein
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Gouania willdenowi chromosome 15, fGouWil2.1, whole genome shotgun sequence
Gouania willdenowi chromosome 15, fGouWil2.1, whole genome shotgun sequencegi|1591640445|gnl|ASM:GCF_900634774 r_Scaffold_6|ref|NC_041058.1||gpp|GPC_000004506.1||gnl|NCBI_GENOMES|82577Nucleotide
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Psammomys obesus unplaced genomic scaffold, mPsaObe1.curated_primary_1811, whole...
Psammomys obesus unplaced genomic scaffold, mPsaObe1.curated_primary_1811, whole genome shotgun sequencegi|2496124216|gnl|ASM:GCF_907164564 ntig20|ref|NW_026585523.1||gpp|GPS_023166934.1|Nucleotide
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BioProject Links for Nucleotide (Select 2272055208) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024