NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) AND Autosomal recessive nonsyndromic hearing loss 9
- 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:
- RCV000299695.13
Allele description [Variation Report for NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly)]
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly)
Condition(s)
- Name:
- Autosomal recessive nonsyndromic hearing loss 9
- Synonyms:
- NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; Deafness, autosomal recessive 9; AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010986; MedGen: C1832828; Orphanet: 90636; OMIM: 601071
-
PREDICTED: Oryza sativa Japonica Group transcription factor BIM2 (LOC4330593), t...
PREDICTED: Oryza sativa Japonica Group transcription factor BIM2 (LOC4330593), transcript variant X1, mRNAgi|2756247149|ref|XM_015772073.3|Nucleotide
-
Pygolabis humphreysi voucher SA_614045_C54539 cytochrome c oxidase subunit I (CO...
Pygolabis humphreysi voucher SA_614045_C54539 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|2743946047|gb|PP917540.1|Nucleotide
-
Pygolabis humphreysi isolate EC22_T401_155 cytochrome c oxidase subunit I (COI) ...
Pygolabis humphreysi isolate EC22_T401_155 cytochrome c oxidase subunit I (COI) gene, partial cds; mitochondrialgi|157286072|gb|EU107577.1|Nucleotide
-
Gamasiphis sp. voucher DNA voucher #42 small subunit ribosomal RNA gene, partial...
Gamasiphis sp. voucher DNA voucher #42 small subunit ribosomal RNA gene, partial sequencegi|2548956899|gb|OR298179.1|Nucleotide
-
mucolipin-3 isoform X2 [Mus musculus]
mucolipin-3 isoform X2 [Mus musculus]gi|568921969|ref|XP_006501148.1|Protein
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Last Updated: Sep 16, 2024