NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) AND Primary hyperoxaluria, type I
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003461055.2
Allele description [Variation Report for NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)]
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)
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
-
Glu/Leu/Phe/Val dehydrogenase [Neobacillus novalis]
Glu/Leu/Phe/Val dehydrogenase [Neobacillus novalis]gi|2511435982|gnl|PRJNA960711|QNH39 5|gb|WHY85243.1|Protein
-
AVT71_gp38 [Bacillus phage 250]
AVT71_gp38 [Bacillus phage 250]Gene ID:26645775Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024