NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) AND Primary hyperoxaluria, type I
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000186222.18
Allele description [Variation Report for NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)]
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)
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
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dnaJ homolog subfamily B member 6 isoform X3 [Panthera tigris]
dnaJ homolog subfamily B member 6 isoform X3 [Panthera tigris]gi|2080281572|ref|XP_042832443.1|Protein
-
PREDICTED: Homo sapiens BRF1 RNA polymerase III transcription initiation factor ...
PREDICTED: Homo sapiens BRF1 RNA polymerase III transcription initiation factor subunit (BRF1), transcript variant X10, mRNAgi|2217297236|ref|XM_005267563.5|Nucleotide
-
transcription factor IIIB 90 kDa subunit isoform X13 [Homo sapiens]
transcription factor IIIB 90 kDa subunit isoform X13 [Homo sapiens]gi|2462539957|ref|XP_054231895.1|Protein
-
PREDICTED: Homo sapiens BRF1 RNA polymerase III transcription initiation factor ...
PREDICTED: Homo sapiens BRF1 RNA polymerase III transcription initiation factor subunit (BRF1), transcript variant X8, mRNAgi|2217297232|ref|XM_047431306.1|Nucleotide
-
Fundc2 FUN14 domain containing 2 [Mus musculus]
Fundc2 FUN14 domain containing 2 [Mus musculus]Gene ID:67391Gene
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Last Updated: Oct 8, 2024