NM_000186.3(CFH):c.184G>A (p.Val62Ile)

NM_000186.3(CFH):c.184G>A (p.Val62Ile)

Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
  • Chr1:196673103 (on Assembly GRCh38)
  • Chr1:196642233 (on Assembly GRCh37)
Other names:
  • CFH, ILE62VAL (rs800292)
Protein change:
I62V, V62I
  • NG_007259.1:g.26093G>A
  • NM_000186.3:c.184G>A
  • NC_000001.11:g.196673103G>A (GRCh38)
  • NP_000177.2:p.Val62Ile
  • LRG_47t1:c.184G>A
  • NC_000001.10:g.196642233G>A (GRCh37)
  • LRG_47p1:p.Val62Ile
  • LRG_47:g.26093G>A
NCBI 1000 Genomes Browser:
Molecular consequence:
NM_000186.3:c.184G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.38659 (A)
  • GMAF 0.46810 (A)

Clinical significance

NM_000186.3(CFH):c.184G>A (p.Val62Ile)

Clinical significance:
risk factor
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
  • Age-related macular degeneration 4[MedGen - OMIM]
See supporting ClinVar records

Variant frequency in dbGaP (Help)

NM_000186.3(CFH):c.184G>A (p.Val62Ile)

GRCh37 Chr1:196642233
Called variants
Submitted with study
Potential variants
Observed in aligned sequence data (dbGaP)
Sample count23310 of 312070 of 32177

Browser views

Assertion and evidence details


Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
risk factor
(Jul 2, 2015)
no assertion criteria providedliterature only
  • Age-related macular degeneration 4[MedGen | OMIM]
germlinePubMed (4)
[See all records that cite these PMIDs]

(Dec 30, 2010)

not providedno assertion providednot providednot providedDepartment of Ophthalmology and Visual Sciences Kyoto University

(Jan 6, 2015)

SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
Department of Ophthalmology and Visual Sciences Kyoto Universitynot providednot providednot providednot providednot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
Department of Ophthalmology and Visual Sciences Kyoto Universitynot providednot providednot provided (not provided)not providednot providednot providednot provided
OMIMgermlinenot providedAge-related macular degeneration 4 (not provided)not providednot providedPubMedBy structural analysis, Hocking et al. (2008) determined that the I62V mutation caused rearrangements within the core of CFH module-1 and increased th…Full description

Last Updated: Sep 29, 2015