NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Autosomal dominant nonsyndromic hearing loss 3A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 18, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000411497.10
Allele description [Variation Report for NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)]
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
Condition(s)
-
Xenopus laevis Lipase maturation factor 2, mRNA (cDNA clone MGC:53562 IMAGE:4681...
Xenopus laevis Lipase maturation factor 2, mRNA (cDNA clone MGC:53562 IMAGE:4681568), complete cdsgi|28461333|gb|BC046869.1|Nucleotide
-
ica1.S islet cell autoantigen 1 S homeolog [Xenopus laevis]
ica1.S islet cell autoantigen 1 S homeolog [Xenopus laevis]Gene ID:414587Gene
-
Arhgef1 Rho guanine nucleotide exchange factor 1 [Mus musculus]
Arhgef1 Rho guanine nucleotide exchange factor 1 [Mus musculus]Gene ID:16801Gene
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Last Updated: Oct 13, 2024