NM_001453.3(FOXC1):c.246C>T (p.Ser82=) AND Axenfeld-Rieger syndrome type 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003869248.1
Allele description [Variation Report for NM_001453.3(FOXC1):c.246C>T (p.Ser82=)]
NM_001453.3(FOXC1):c.246C>T (p.Ser82=)
Condition(s)
- Name:
- Axenfeld-Rieger syndrome type 3 (RIEG3)
- Synonyms:
- Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; Rieger syndrome type 3; Anterior chamber cleavage syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011233; MedGen: C2678503; Orphanet: 782; OMIM: 602482
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sn-1-specific diacylglycerol lipase ABHD11 isoform X4 [Homo sapiens]
sn-1-specific diacylglycerol lipase ABHD11 isoform X4 [Homo sapiens]gi|2217368674|ref|XP_047276842.1|Protein
-
sn-1-specific diacylglycerol lipase ABHD11 isoform X1 [Homo sapiens]
sn-1-specific diacylglycerol lipase ABHD11 isoform X1 [Homo sapiens]gi|2462616344|ref|XP_054215090.1|Protein
-
beta-tubulin, partial [Thelonectria spinulospora]
beta-tubulin, partial [Thelonectria spinulospora]gi|2326645835|gb|UZG75447.1|Protein
-
UDP-N-acetyl-D-mannosamine dehydrogenase [Klebsiella pneumoniae]
UDP-N-acetyl-D-mannosamine dehydrogenase [Klebsiella pneumoniae]gi|2809316647|gnl|PRJNA1160922|ACE3 280|gb|XHG16351.1|Protein
-
Rattus norvegicus polyhomeotic homolog 3 (Phc3), mRNA
Rattus norvegicus polyhomeotic homolog 3 (Phc3), mRNAgi|157817926|ref|NM_001107662.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024