NM_004183.4(BEST1):c.404G>A (p.Gly135Asp) AND Vitelliform macular dystrophy 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001002890.1
Allele description [Variation Report for NM_004183.4(BEST1):c.404G>A (p.Gly135Asp)]
NM_004183.4(BEST1):c.404G>A (p.Gly135Asp)
Condition(s)
- Name:
- Vitelliform macular dystrophy 2
- Synonyms:
- VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET; VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET; Best disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007931; MedGen: C2745945; Orphanet: 1243; OMIM: 153700
-
toll-interacting protein isoform 1 [Homo sapiens]
toll-interacting protein isoform 1 [Homo sapiens]gi|21361619|ref|NP_061882.2|Protein
-
Gm41800 predicted gene, 41800 [Mus musculus]
Gm41800 predicted gene, 41800 [Mus musculus]Gene ID:105246521Gene
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Last Updated: Sep 29, 2024