NM_000266.4(NDP):c.269G>A (p.Arg90His) AND Hearing impairment
- Germline classification:
- Likely pathogenic (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:
- RCV001375287.3
Allele description [Variation Report for NM_000266.4(NDP):c.269G>A (p.Arg90His)]
NM_000266.4(NDP):c.269G>A (p.Arg90His)
Condition(s)
- Name:
- Hearing impairment
- Identifiers:
- MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
-
homeobox protein MIXL1 isoform 1 [Homo sapiens]
homeobox protein MIXL1 isoform 1 [Homo sapiens]gi|538919393|ref|NP_001269331.1|Protein
-
Menegazzia terebrata clone F004978 internal transcribed spacer 1, partial sequen...
Menegazzia terebrata clone F004978 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequencegi|723943686|gb|KM250243.1|Nucleotide
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Last Updated: Jul 7, 2024