NM_006363.6(SEC23B):c.993+14G>A AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003788687.2
Allele description [Variation Report for NM_006363.6(SEC23B):c.993+14G>A]
NM_006363.6(SEC23B):c.993+14G>A
Condition(s)
- Name:
- Congenital dyserythropoietic anemia, type II (CDAN2)
- Synonyms:
- Dyserythropoietic anemia, congenital type 2; CDA 2; HEMPAS anemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009134; MedGen: C1306589; Orphanet: 98873; OMIM: 224100
-
GSG1 AND (alive[prop]) (2107)
Gene
-
LOC131146840 [Malania oleifera]
LOC131146840 [Malania oleifera]Gene ID:131146840Gene
-
AKR1D1 [Lynx rufus]
AKR1D1 [Lynx rufus]Gene ID:124524272Gene
-
GAL3ST1 [Lynx rufus]
GAL3ST1 [Lynx rufus]Gene ID:124518158Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024