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NM_000030.2(AGXT):c.777-44A>G

Variation ID: Help
204049
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Nov 27, 2014
Number of submission(s):
1
Condition(s):
Primary hyperoxaluria, type I[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000030.2(AGXT):c.777-44A>G

Allele ID:
200551
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
  • Chr2: 240875891 (on Assembly GRCh38)
  • Chr2: 241815308 (on Assembly GRCh37)
HGVS:
  • NG_008005.1:g.12147A>G
  • NM_000030.2:c.777-44A>G
  • NC_000002.12:g.240875891A>G (GRCh38)
  • NC_000002.11:g.241815308A>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs12464426
Molecular consequence:
NM_000030.2:c.777-44A>G: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.21865 (A)
  • 1000 Genomes Project 0.78135
  • Exome Aggregation Consortium (ExAC) 0.72583
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.80694
  • The Genome Aggregation Database (gnomAD) 0.79319
  • The Genome Aggregation Database (gnomAD), exomes 0.71503
  • Trans-Omics for Precision Medicine (TOPMed) 0.79222

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Nov 27, 2014)
no assertion criteria providedresearchgermlineClinical Biochemistry Laboratory,Health Services LaboratorySCV000239578.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Clinical Biochemistry Laboratory,Health Services Laboratorynot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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