NM_001174089.2(SLC4A11):c.2192+1G>A AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002497443.1
Allele description [Variation Report for NM_001174089.2(SLC4A11):c.2192+1G>A]
NM_001174089.2(SLC4A11):c.2192+1G>A
Condition(s)
- Name:
- Corneal dystrophy-perceptive deafness syndrome (CDPD)
- Synonyms:
- Corneal dystrophy and perceptive deafness; Congenital corneal dystrophy, progressive sensorineural deafness; Harboyan syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009015; MedGen: C1857572; Orphanet: 1490; OMIM: 217400
- Name:
- Congenital hereditary endothelial dystrophy of cornea
- Synonyms:
- Corneal endothelial dystrophy type 2; Corneal dystrophy, congenital hereditary endothelial; Congenital hereditary endothelial dystrophy of the cornea; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009019; MedGen: C1857569; Orphanet: 293603; OMIM: 217700
Assertion and evidence details
Last Updated: Feb 20, 2024