chr19:6718387:G>C Detail (hg19) (C3)

Information

Genome

Assembly Position
hg19 chr19:6,718,387-6,718,387
hg38 chr19:6,718,376-6,718,376 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000064.3:c.304C>G NP_000055.2:p.Arg102Gly
Ensemble ENST00000245907.11:c.304C>G ENST00000245907.11:p.Arg102Gly
ENST00000695693.1:c.304C>G ENST00000695693.1:p.Arg102Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 120700 OMIM
HGNC 1318 HGNC
Ensembl ENSG00000125730 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61005598 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2013-04-01 no assertion criteria provided MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO germline Detail
Benign 2013-04-01 no assertion criteria provided C3S/C3F POLYMORPHISM germline Detail
Benign 2017-04-27 criteria provided, single submitter age related macular degeneration 9 germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2022-09-27 criteria provided, single submitter germline Detail
Benign 2015-01-23 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.319 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.480 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.021 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.005 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.311 age related macular degeneration Seven new loci associated with age-related macular degeneration. GWASCAT 23455636 Detail
0.311 age related macular degeneration Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-rela... GWASCAT 21665990 Detail
0.311 age related macular degeneration Genome-wide association identifies SKIV2L and MYRIP as protective factors for ag... GWASCAT 20861866 Detail
0.311 age related macular degeneration [implicate different biologic pathways than previously reported and provide new ... GAD 20385826 Detail
0.311 age related macular degeneration Genetic variants near TIMP3 and high-density lipoprotein-associated loci influen... GWASCAT 20385819 Detail
0.311 age related macular degeneration [Genetic variants near TIMP3 and high-density lipoprotein-associated loci influe... GAD 20385819 Detail
0.311 age related macular degeneration Genome-wide association study of advanced age-related macular degeneration ident... GWASCAT 20385826 Detail
0.311 age related macular degeneration We investigated the association between the LOC387715 A69S and complement compon... BeFree 19048105 Detail
0.311 age related macular degeneration Heritability and genome-wide association study to assess genetic differences bet... GWASCAT 22705344 Detail
0.311 age related macular degeneration [Complement component 3: an assessment of association with AMD and analysis of g... GAD 20157618 Detail
0.010 Geographic Atrophy Analyzing the currently largest dataset on GA lesion growth (N = 388), our findi... BeFree 25962167 Detail
0.082 obesity Moreover, in exploratory analyses, we identified a number of possible interactio... BeFree 24287500 Detail
0.480 age related macular degeneration Moreover, in exploratory analyses, we identified a number of possible interactio... BeFree 24287500 Detail
0.001 obesity Moreover, in exploratory analyses, we identified a number of possible interactio... BeFree 24287500 Detail
0.311 age related macular degeneration Moreover, in exploratory analyses, we identified a number of possible interactio... BeFree 24287500 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000064.4(C3):c.304C>G (p.Arg102Gly) AND MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO ClinVar Detail
NM_000064.4(C3):c.304C>G (p.Arg102Gly) AND C3S/C3F POLYMORPHISM ClinVar Detail
NM_000064.4(C3):c.304C>G (p.Arg102Gly) AND Age related macular degeneration 9 ClinVar Detail
NM_000064.4(C3):c.304C>G (p.Arg102Gly) AND not provided ClinVar Detail
NM_000064.4(C3):c.304C>G (p.Arg102Gly) AND Focal segmental glomerulosclerosis ClinVar Detail
NM_000064.4(C3):c.304C>G (p.Arg102Gly) AND Inborn genetic diseases ClinVar Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seven new loci associated with age-related macular degeneration. DisGeNET Detail
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degenera... DisGeNET Detail
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular de... DisGeNET Detail
[implicate different biologic pathways than previously reported and provide new avenues for preventi... DisGeNET Detail
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to... DisGeNET Detail
[Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility t... DisGeNET Detail
Genome-wide association study of advanced age-related macular degeneration identifies a role of the ... DisGeNET Detail
We investigated the association between the LOC387715 A69S and complement component C3 R102G risk al... DisGeNET Detail
Heritability and genome-wide association study to assess genetic differences between advanced age-re... DisGeNET Detail
[Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-en... DisGeNET Detail
Analyzing the currently largest dataset on GA lesion growth (N = 388), our findings suggest a signif... DisGeNET Detail
Moreover, in exploratory analyses, we identified a number of possible interactions including between... DisGeNET Detail
Moreover, in exploratory analyses, we identified a number of possible interactions including between... DisGeNET Detail
Moreover, in exploratory analyses, we identified a number of possible interactions including between... DisGeNET Detail
Moreover, in exploratory analyses, we identified a number of possible interactions including between... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2230199 dbSNP
Genome
hg19
Position
chr19:6,718,387-6,718,387
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
156.33
Standard deviation of sample read depth (HGVD)
71.29
Number of reference allele (HGVD)
2417
Number of alternative allele (HGVD)
3
Allele Frequency (HGVD)
0.0012396694214876034
Gene Symbol (HGVD)
C3
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.6221400508435407E-4
Chromosome Counts in All Race (ExAC)
121366
Allele Counts in All Race (ExAC)
18423
Heterozygous Counts in All Race (ExAC)
14919
Homozygous Counts in All Race (ExAC)
1752
Allele Frequency in All Race (ExAC)
0.15179704365308241
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