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NM_000352.4(ABCC8):c.4270A>G (p.Ile1424Val)

Variation ID: Help
9104
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 5, 2011
Number of submission(s):
2
Condition(s):
Permanent neonatal diabetes mellitus[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000352.4(ABCC8):c.4270A>G (p.Ile1424Val)

Allele ID:
24143
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
  • Chr11: 17395647 (on Assembly GRCh38)
  • Chr11: 17417194 (on Assembly GRCh37)
Protein change:
I1424V, I1425V
HGVS:
  • NG_008867.1:g.86256A>G
  • NM_000352.4:c.4270A>G
  • NM_001287174.1:c.4273A>G
  • NP_000343.2:p.Ile1424Val
  • NP_001274103.1:p.Ile1425Val
  • NC_000011.10:g.17395647T>C (GRCh38)
  • NC_000011.9:g.17417194T>C (GRCh37)
  • NM_000352.3:c.4270A>G
  • Q09428:p.Ile1424Val
Links:
NCBI 1000 Genomes Browser:
rs80356653
Molecular consequence:
NM_000352.4:c.4270A>G: missense variant [Sequence Ontology SO:0001583]

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
Pathogenic
(Aug 3, 2006)
no assertion criteria providedliterature onlygermlineOMIMSCV000029890.1
Pathogenic
(Jul 5, 2011)
no assertion criteria providedcurationnot providedGeneReviewsSCV000040648.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 19, 2019

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