NM_012203.2(GRHPR):c.441_442del (p.Cys147fs) AND Primary hyperoxaluria, type II
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Oct 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000411789.3
Allele description [Variation Report for NM_012203.2(GRHPR):c.441_442del (p.Cys147fs)]
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs)
Condition(s)
- Name:
- Primary hyperoxaluria, type II (HP2)
- Synonyms:
- OXALOSIS II; Primary hyperoxaluria type 2; Oxalosis 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009824; MedGen: C0268165; Orphanet: 416; Orphanet: 93599; OMIM: 260000
-
N-acetylglucosaminyltransferase, partial [Cupriavidus sp. tpud23.3]
N-acetylglucosaminyltransferase, partial [Cupriavidus sp. tpud23.3]gi|787752708|gb|AKA28986.1|Protein
-
electron transfer flavoprotein beta chain, partial [Cupriavidus sp. tpud23.3]
electron transfer flavoprotein beta chain, partial [Cupriavidus sp. tpud23.3]gi|787752985|gb|AKA29066.1|Protein
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DNA gyrase B subunit, partial [Cupriavidus sp. tpud23.3]
DNA gyrase B subunit, partial [Cupriavidus sp. tpud23.3]gi|787753520|gb|AKA29226.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023