NM_012188.5(FOXI1):c.727C>A (p.Pro243Thr) AND Autosomal recessive nonsyndromic hearing loss 4
- 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:
- RCV001153929.4
Allele description [Variation Report for NM_012188.5(FOXI1):c.727C>A (p.Pro243Thr)]
NM_012188.5(FOXI1):c.727C>A (p.Pro243Thr)
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
-
PREDICTED: Aotus nancymaae U4 spliceosomal RNA (LOC135278221), ncRNA
PREDICTED: Aotus nancymaae U4 spliceosomal RNA (LOC135278221), ncRNAgi|2715643378|ref|XR_010345758.1|Nucleotide
-
PREDICTED: Rattus norvegicus kinesin family member 27 (Kif27), transcript varian...
PREDICTED: Rattus norvegicus kinesin family member 27 (Kif27), transcript variant X6, misc_RNAgi|2678905797|ref|XR_010058809.1|Nucleotide
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Eriobotrya japonica
Eriobotrya japonicaChampagne QTLBioProject
-
Stroke, Lacunar
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Dementia, Vascular
Dementia, VascularAn imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic B...<br/>Year introduced: 1989MeSH
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Last Updated: Sep 29, 2024