NM_000325.6(PITX2):c.862C>T (p.Leu288=) AND Hypoplasia of the iris
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000408426.5
Allele description [Variation Report for NM_000325.6(PITX2):c.862C>T (p.Leu288=)]
NM_000325.6(PITX2):c.862C>T (p.Leu288=)
Condition(s)
- Name:
- Hypoplasia of the iris
- Identifiers:
- MedGen: C0344539; Human Phenotype Ontology: HP:0007676
-
Arborophila rufogularis ovalbumin (SERPINB14) gene, intron c
Arborophila rufogularis ovalbumin (SERPINB14) gene, intron cgi|511636418|gb|KC778891.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024