NM_001981.3(EPS15):c.1795G>C (p.Asp599His) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004617719.1
Allele description [Variation Report for NM_001981.3(EPS15):c.1795G>C (p.Asp599His)]
NM_001981.3(EPS15):c.1795G>C (p.Asp599His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Danio rerio protein O-glucosyltransferase 2 (poglut2), mRNA
Danio rerio protein O-glucosyltransferase 2 (poglut2), mRNAgi|41055549|ref|NM_200931.1|Nucleotide
-
Chiroptera muscle pyruvate kinase (PKM2) mRNA, partial cds.
Chiroptera muscle pyruvate kinase (PKM2) mRNA, partial cds.PopSet: 874528378PopSet
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024