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NM_001008388.4(CISD2):c.109G>C (p.Glu37Gln)

Variation ID: Help
892
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 1, 2007
Number of submission(s):
1
Condition(s):
Wolfram syndrome 2[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001008388.4(CISD2):c.109G>C (p.Glu37Gln)

Allele ID:
15931
Variant type:
single nucleotide variant
Cytogenetic location:
4q24
Genomic location:
  • Chr4: 102885221 (on Assembly GRCh38)
  • Chr4: 103806378 (on Assembly GRCh37)
Other names:
  • IVS1DS, G-C, +6
HGVS:
  • NG_008636.2:g.21244G>C
  • NM_001008388.4:c.109G>C
  • NP_001008389.1:p.Glu37Gln
  • NC_000004.12:g.102885221G>C (GRCh38)
  • NC_000004.11:g.103806378G>C (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs63749888
Molecular consequence:
NM_001008388.4:c.109G>C: missense variant [Sequence Ontology SO:0001583]

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
(Oct 1, 2007)
no assertion criteria providedliterature onlygermlineOMIMSCV000021090.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 9, 2018