NM_001142800.2(EYS):c.5290dup (p.Ile1764fs) AND Retinitis pigmentosa 25
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003462571.2
Allele description [Variation Report for NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)]
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)
Condition(s)
-
alpha-1,4-glucan--maltose-1-phosphate maltosyltransferase [Fulvivirga ulvae]
alpha-1,4-glucan--maltose-1-phosphate maltosyltransferase [Fulvivirga ulvae]gi|2174458593|gnl|PRJNA789061|LVD17 0|gb|UII34111.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024