NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg) AND Severe early-childhood-onset retinal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001162313.4
Allele description [Variation Report for NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)]
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)
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
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Mus musculus BAC clone RP24-226C9 from chromosome 8, complete sequence
Mus musculus BAC clone RP24-226C9 from chromosome 8, complete sequencegi|84872409|gb|AC141881.4||gnl|wugs 4-226C9Nucleotide
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Mus musculus SAR1 gene homolog A (S. cerevisiae), mRNA (cDNA clone MGC:6113 IMAG...
Mus musculus SAR1 gene homolog A (S. cerevisiae), mRNA (cDNA clone MGC:6113 IMAGE:3585667), complete cdsgi|13542684|gb|BC005549.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024