NM_000525.3(KCNJ11):c.179T>A (p.Phe60Tyr)

Variation ID: Help
30135
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 15, 2010
Number of submission(s):
1
Condition(s):
Diabetes mellitus, permanent neonatal, with neurologic features[MedGen]
See supporting ClinVar records

Allele(s) Help

NM_000525.3(KCNJ11):c.179T>A (p.Phe60Tyr)

Allele ID:
39091
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
  • Chr11: 17387913 (on Assembly GRCh38)
  • Chr11: 17409460 (on Assembly GRCh37)
Protein change:
F60Y
HGVS:
  • NG_012446.1:g.5747T>A
  • NM_000525.3:c.179T>A
  • NM_001166290.1:c.-16-67T>A
  • NC_000011.10:g.17387913A>T (GRCh38)
  • NP_000516.3:p.Phe60Tyr
  • NC_000011.9:g.17409460A>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs387906783
Molecular consequence:
  • NM_000525.3:c.179T>A: missense variant SO:0001583
  • NM_001166290.1:c.-16-67T>A: intron variant SO:0001627

1 Affected gene

Variant frequency in dbGaP Help

NM_000525.3(KCNJ11):c.179T>A (p.Phe60Tyr)

GRCh37 Chr11:17409460
Called variantsPotential variants
Sample countno data0 of 44546

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Mar 15, 2010)
no assertion criteria providedliterature only
  • Diabetes mellitus, permanent neonatal, with neurologic features[MedGen]
germlineOMIMSCV000044337.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Feb 17, 2016