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NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys)

Variation ID: Help
16558
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys)

Allele ID:
31597
Variant type:
single nucleotide variant
Cytogenetic location:
1q31
Genomic location:
  • Chr1: 196747245 (on Assembly GRCh38)
  • Chr1: 196716375 (on Assembly GRCh37)
Protein change:
R1210C
HGVS:
  • NG_007259.1:g.100235C>T
  • NM_000186.3:c.3628C>T
  • NP_000177.2:p.Arg1210Cys
  • NC_000001.11:g.196747245C>T (GRCh38)
  • LRG_47t1:c.3628C>T
  • NC_000001.10:g.196716375C>T (GRCh37)
  • LRG_47p1:p.Arg1210Cys
  • LRG_47:g.100235C>T
Links:
NCBI 1000 Genomes Browser:
rs121913059
Molecular consequence:
NM_000186.3:c.3628C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00015 (T)
  • ExAC 0.00017 (T)

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
(Jul 1, 2015)
no assertion criteria providedliterature onlygermlineOMIMSCV000038304.6
risk factor
(Jul 1, 2015)
no assertion criteria providedliterature only
  • Atypical hemolytic-uremic syndrome 1[MedGen | OMIM]
germlineOMIMSCV000038305.6
risk factor
(Jul 1, 2015)
no assertion criteria providedliterature only
  • Age-related macular degeneration 4[MedGen | OMIM]
germlineOMIMSCV000043829.6
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017