NM_000550.3(TYRP1):c.670C>T (p.His224Tyr) AND Ocular albinism
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 30, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415277.1
Allele description
NM_000550.3(TYRP1):c.670C>T (p.His224Tyr)
Condition(s)
- Name:
- Ocular albinism
- Identifiers:
- MONDO: MONDO:0017304; MeSH: D016117; MedGen: C0078917; Human Phenotype Ontology: HP:0001107
-
XM_0170219131 (0)
Nucleotide
-
KCNS1[gene] (44)
ClinVar
-
NADH oxidase [Acinetobacter baumannii PKAB07]
NADH oxidase [Acinetobacter baumannii PKAB07]gi|586959361|gnl|PRJNA224967|U476_0 gb|AHJ92656.1|Protein
-
Xanthomonas sp. NCPPB 1131 strain NCPPB1131 scf_19414_7201_contig_1, whole genom...
Xanthomonas sp. NCPPB 1131 strain NCPPB1131 scf_19414_7201_contig_1, whole genome shotgun sequencegi|348020753|gb|AGHY01003000.1||gnl AGHY01|scf_19414_7201_contig_1Nucleotide
-
RbsK [Pasteurella multocida subsp. multocida str. Pm70]
RbsK [Pasteurella multocida subsp. multocida str. Pm70]gi|12720370|gb|AAK02236.1||gnl|CBCU P0152Protein
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Last Updated: Sep 10, 2022