NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser) AND Oculocutaneous albinism type 3
- 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:
- RCV000368307.5
Allele description [Variation Report for NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser)]
NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser)
Condition(s)
- Name:
- Oculocutaneous albinism type 3 (OCA3)
- Synonyms:
- ALBINISM III; Albinism 3; Albinism, oculocutaneous, type III; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008747; MedGen: C0342683; Orphanet: 79433; OMIM: 203290
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Mus musculus proteasome (prosome, macropain) subunit, alpha type 4, mRNA (cDNA c...
Mus musculus proteasome (prosome, macropain) subunit, alpha type 4, mRNA (cDNA clone MGC:5640 IMAGE:3592024), complete cdsgi|12805050|gb|BC001982.1|Nucleotide
-
xl11044G09F_1376821 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clon...
xl11044G09F_1376821 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clone xl11044G09 5', mRNA sequencegi|798017083|gnl|dbEST|79648306|gb| 604.1|Nucleotide
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xl11009A10F_1289303 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clon...
xl11009A10F_1289303 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clone xl11009A10 5', mRNA sequencegi|798027469|gnl|dbEST|79641444|gb| 742.1|Nucleotide
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xl11048B10F_1377620 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clon...
xl11048B10F_1377620 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clone xl11048B10 5', mRNA sequencegi|798027572|gnl|dbEST|79649009|gb| 307.1|Nucleotide
-
Xenopus laevis hypothetical protein MGC83164, mRNA (cDNA clone MGC:83164 IMAGE:6...
Xenopus laevis hypothetical protein MGC83164, mRNA (cDNA clone MGC:83164 IMAGE:6631006), complete cdsgi|47682296|gb|BC070693.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023