NM_002241.5(KCNJ10):c.*3919G>A AND Autosomal recessive nonsyndromic hearing loss 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001100891.4
Allele description [Variation Report for NM_002241.5(KCNJ10):c.*3919G>A]
NM_002241.5(KCNJ10):c.*3919G>A
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
-
H.sapiens mRNA for DAN26 protein, partial
H.sapiens mRNA for DAN26 protein, partialgi|1770393|emb|Y08265.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024