NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) AND Severe early-childhood-onset retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000505101.2
Allele description [Variation Report for NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)]
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
Condition(s)
- Name:
- Severe early-childhood-onset retinal dystrophy (STGD1)
- Synonyms:
- MACULAR DYSTROPHY WITH FLECKS, TYPE 1; STGD; Stargardt macular dystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009549; MeSH: D000080362; MedGen: C1855465; Orphanet: 827; OMIM: 248200
-
PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta ...
PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Homo sapiens]Gene ID:5287Gene
-
Gene Links for Nucleotide (Select 1790094193) (1)
Gene
-
immunoglobulin-like domain-containing protein [Acholeplasma hippikon]
immunoglobulin-like domain-containing protein [Acholeplasma hippikon]gi|737388029|ref|WP_035369501.1|Protein
-
glycosyltransferase family 25 protein [Helicobacter pylori]
glycosyltransferase family 25 protein [Helicobacter pylori]gi|652544612|ref|WP_026938416.1|Protein
-
anion permease [Citrobacter freundii]
anion permease [Citrobacter freundii]gi|1103801594|ref|WP_071698090.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024