NM_000550.3(TYRP1):c.*573T>G AND Oculocutaneous albinism type 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000312645.5
Allele description [Variation Report for NM_000550.3(TYRP1):c.*573T>G]
NM_000550.3(TYRP1):c.*573T>G
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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Oryza sativa Japonica Group cyclin-B2-1-like (LOC4336670), mRNA
Oryza sativa Japonica Group cyclin-B2-1-like (LOC4336670), mRNAgi|2491778610|ref|NM_001419803.1|Nucleotide
-
toll-like receptor 6 [Mus musculus]
toll-like receptor 6 [Mus musculus]gi|11596326|gb|AAG38563.1|AF314636_Protein
-
solute carrier family 2, facilitated glucose transporter member 5 isoform X1 [Ho...
solute carrier family 2, facilitated glucose transporter member 5 isoform X1 [Homo sapiens]gi|2217270362|ref|XP_047284568.1|Protein
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Cattleya NADH dehydrogenase subunit J (ndhJ) gene, partial cds; chloroplast.
Cattleya NADH dehydrogenase subunit J (ndhJ) gene, partial cds; chloroplast.PopSet: 171189135PopSet
-
Laeliinae alanine-glyoxylate aminotransferase (agt1) gene, partial sequence.
Laeliinae alanine-glyoxylate aminotransferase (agt1) gene, partial sequence.PopSet: 440506073PopSet
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023