chr19:6713251:G>A Detail (hg38) (C3)

Information

Genome

Assembly Position
hg19 chr19:6,713,262-6,713,262 View the variant detail on this assembly version.
hg38 chr19:6,713,251-6,713,251

HGVS

Type Transcript Protein
RefSeq NM_000064.3:c.941C>T NP_000055.2:p.Pro314Leu
Ensemble ENST00000245907.11:c.941C>T ENST00000245907.11:p.Pro314Leu
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 tgv61005193 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 1990-10-01 no assertion criteria provided C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE germline Detail
Benign 2017-04-27 criteria provided, single submitter Atypical hemolytic-uremic syndrome with C3 anomaly germline Detail
Benign 2017-04-27 criteria provided, single submitter age related macular degeneration 9 germline Detail
Benign 2017-04-27 criteria provided, single submitter complement component 3 deficiency 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
<0.001 Meningitis, Bacterial Rs1047286 (Pro314Leu) in complement component 3 was associated with reduced susc... BeFree 23068452 Detail
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
Annotation

Annotations

DescrptionSourceLinks
NM_000064.4(C3):c.941C>T (p.Pro314Leu) AND C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE ClinVar Detail
NM_000064.4(C3):c.941C>T (p.Pro314Leu) AND Atypical hemolytic-uremic syndrome with C3 anomaly ClinVar Detail
NM_000064.4(C3):c.941C>T (p.Pro314Leu) AND Age related macular degeneration 9 ClinVar Detail
NM_000064.4(C3):c.941C>T (p.Pro314Leu) AND Complement component 3 deficiency ClinVar Detail
NM_000064.4(C3):c.941C>T (p.Pro314Leu) AND not provided ClinVar Detail
NM_000064.4(C3):c.941C>T (p.Pro314Leu) AND Focal segmental glomerulosclerosis ClinVar Detail
NM_000064.4(C3):c.941C>T (p.Pro314Leu) AND Inborn genetic diseases ClinVar Detail
Rs1047286 (Pro314Leu) in complement component 3 was associated with reduced susceptibility to bacter... 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
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... 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
rs1047286 dbSNP
Genome
hg38
Position
chr19:6,713,251-6,713,251
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
110.15
Standard deviation of sample read depth (HGVD)
54.85
Number of reference allele (HGVD)
2415
Number of alternative allele (HGVD)
3
Allele Frequency (HGVD)
0.0012406947890818859
Gene Symbol (HGVD)
C3
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.4730261634637646E-4
Chromosome Counts in All Race (ExAC)
120776
Allele Counts in All Race (ExAC)
17255
Heterozygous Counts in All Race (ExAC)
14111
Homozygous Counts in All Race (ExAC)
1572
Allele Frequency in All Race (ExAC)
0.14286778830231173
Genome browser