NM_000030.3(AGXT):c.680+5G>C AND Primary hyperoxaluria, type I
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 27, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000186363.2
Allele description [Variation Report for NM_000030.3(AGXT):c.680+5G>C]
NM_000030.3(AGXT):c.680+5G>C
Condition(s)
- Name:
- Primary hyperoxaluria, type I (HP1)
- Synonyms:
- OXALOSIS I; Primary hyperoxaluria type 1; Oxalosis 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009823; MedGen: C0268164; Orphanet: 416; Orphanet: 93598; OMIM: 259900
-
Rab5al1 Rab5a, member RAS oncogene family-like 1 [Rattus norvegicus]
Rab5al1 Rab5a, member RAS oncogene family-like 1 [Rattus norvegicus]Gene ID:100361891Gene
-
CERK [Pan paniscus]
CERK [Pan paniscus]Gene ID:100993780Gene
-
NT5M [Protobothrops mucrosquamatus]
NT5M [Protobothrops mucrosquamatus]Gene ID:107289133Gene
-
PIG-Z Phosphatidylinositol glycan anchor biosynthesis class Z [Drosophila melano...
PIG-Z Phosphatidylinositol glycan anchor biosynthesis class Z [Drosophila melanogaster]Gene ID:19835548Gene
-
GVI51_K12177 [Nakaseomyces glabratus]
GVI51_K12177 [Nakaseomyces glabratus]Gene ID:2889981Gene
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Last Updated: Nov 11, 2023