NM_138691.3(TMC1):c.545G>T (p.Gly182Val) AND Autosomal recessive nonsyndromic hearing loss 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001808043.1
Allele description [Variation Report for NM_138691.3(TMC1):c.545G>T (p.Gly182Val)]
NM_138691.3(TMC1):c.545G>T (p.Gly182Val)
Condition(s)
-
Taxonomy Links for Protein (Select 2217356602) (1)
Taxonomy
-
(("clinical guidelines"[Resource Type]) OR "practice guideline"[P... (3)
(("clinical guidelines"[Resource Type]) OR "practice guideline"[Publication Type]) AND ("Myopathy, congenital, progressive, with scoliosis")SearchBooks
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otoferlin isoform X9 [Canis lupus familiaris]
otoferlin isoform X9 [Canis lupus familiaris]gi|1952694959|ref|XP_038309549.1|Protein
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PopSet Links for Nucleotide (Select 284798833) (1)
PopSet
-
unclassified Gammaproteobacteria 16S ribosomal RNA gene, partial sequence.
unclassified Gammaproteobacteria 16S ribosomal RNA gene, partial sequence.PopSet: 284798771PopSet
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023