NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) AND Hearing impairment
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001375297.3
Allele description [Variation Report for NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)]
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
Condition(s)
- Name:
- Hearing impairment
- Identifiers:
- MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
-
head-to-tail connector protein [Mycobacterium phage Lokk]
head-to-tail connector protein [Mycobacterium phage Lokk]gi|1239400321|gb|ASW31364.1|Protein
-
VP3 [Gokushovirus WZ-2015a]
VP3 [Gokushovirus WZ-2015a]gi|961370267|gb|ALS03408.1|Protein
-
Homo sapiens chromosome 3 genomic contig HG2069_PATCH, GRC reference assembly FI...
Homo sapiens chromosome 3 genomic contig HG2069_PATCH, GRC reference assembly FIX PATCH for GRCh38gi|2187828766|gnl|ASM:GCA_000005045 G2069_PATCH|gb|MU273348.1|Nucleotide
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Last Updated: Jun 23, 2024