NM_001368894.2(PAX6):c.553C>A (p.Gln185Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001974122.3
Allele description
NM_001368894.2(PAX6):c.553C>A (p.Gln185Lys)
Condition(s)
- Name:
- Aniridia 1 (AN1)
- Identifiers:
- MONDO: MONDO:0024507; MedGen: C0344542; Orphanet: 250923; OMIM: 106210
- Name:
- Irido-corneo-trabecular dysgenesis (ASGD5)
- Synonyms:
- ANTERIOR SEGMENT DYSGENESIS 5
- Identifiers:
- MONDO: MONDO:0011414; MedGen: C0344559; Orphanet: 708; OMIM: 604229; Human Phenotype Ontology: HP:0000659
-
Bax inhibitor-1/YccA family protein [Pedobacter heparinus]
Bax inhibitor-1/YccA family protein [Pedobacter heparinus]gi|506289807|ref|WP_015809582.1|Protein
-
Mrps18c mitochondrial ribosomal protein S18C [Rattus norvegicus]
Mrps18c mitochondrial ribosomal protein S18C [Rattus norvegicus]Gene ID:289469Gene
-
Gene Links for GEO Profiles (Select 103996694) (1)
Gene
-
Same Parent, Connectivity for PubChem Compound (Select 163523854) (1)
PubChem Compound
-
Profile neighbors for GEO Profiles (Select 104010902) (200)
GEO Profiles
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024