NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter) AND Vitelliform macular dystrophy 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 5, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000149549.12
Allele description [Variation Report for NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter)]
NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter)
Condition(s)
-
histone-lysine N-methyltransferase 2C isoform X4 [Carcharodon carcharias]
histone-lysine N-methyltransferase 2C isoform X4 [Carcharodon carcharias]gi|2031744435|ref|XP_041040299.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024