NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002493840.1
Allele description [Variation Report for NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His)]
NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His)
Condition(s)
- Name:
- Autosomal recessive nonsyndromic hearing loss 4 (DFNB4)
- Synonyms:
- NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Nonsyndromic enlarged vestibular aqueduct (NSEVA); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010933; MedGen: C3538946; Orphanet: 90636; OMIM: 600791
- 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
- Name:
- EAST syndrome (SESAMES)
- Synonyms:
- SeSAME syndrome; Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; Epilepsy, ataxia, sensorineural deafness and tubulopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013005; MedGen: C2748572; Orphanet: 199343; OMIM: 612780
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Lacticaseibacillus rhamnosus L31 contig00055, whole genome shotgun sequence
Lacticaseibacillus rhamnosus L31 contig00055, whole genome shotgun sequencegi|723594551|ref|NZ_AYTQ01000055.1| WGS:NZ_AYTQ01|contig00055Nucleotide
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Last Updated: Apr 6, 2024