chr17:78358945:G>C Detail (hg19) (RNF213)

Information

Genome

Assembly Position
hg19 chr17:78,358,945-78,358,945
hg38 chr17:80,385,145-80,385,145 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001256071.2:c.14429G>C NP_001243000.2:p.Arg4810Thr
Ensemble ENST00000508628.6:c.14576G>C ENST00000508628.6:p.Arg4859Thr
ENST00000582970.6:c.14429G>C ENST00000582970.6:p.Arg4810Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 613768 OMIM
HGNC 14539 HGNC
Ensembl ENSG00000173821 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Moyamoya disease MDR analysis failed to detect any significant interaction among these five loci ... BeFree 23769926 Detail
0.125 Moyamoya disease 1 RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, su... BeFree 23850618 Detail
0.248 Moyamoya disease RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, su... BeFree 23850618 Detail
<0.001 Moyamoya disease 1 MDR analysis failed to detect any significant interaction among these five loci ... BeFree 23769926 Detail
0.248 Moyamoya disease Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 ... BeFree 22688066 Detail
0.125 Moyamoya disease 1 Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 ... BeFree 22688066 Detail
0.125 Moyamoya disease 1 The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces ... BeFree 23994138 Detail
0.248 Moyamoya disease The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces ... BeFree 23994138 Detail
<0.001 Moyamoya disease 1 MDR analysis failed to detect any significant interaction among these five loci ... BeFree 23769926 Detail
<0.001 Stricture of artery Recently, we have reported that the recently identified MMD susceptibility gene ... BeFree 25817623 Detail
<0.001 Moyamoya disease MDR analysis failed to detect any significant interaction among these five loci ... BeFree 23769926 Detail
Annotation

Annotations

DescrptionSourceLinks
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of... DisGeNET Detail
RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is ... DisGeNET Detail
RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is ... DisGeNET Detail
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of... DisGeNET Detail
Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeas... DisGeNET Detail
Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeas... DisGeNET Detail
The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability ... DisGeNET Detail
The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability ... DisGeNET Detail
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of... DisGeNET Detail
Recently, we have reported that the recently identified MMD susceptibility gene variant RNF213 c.145... DisGeNET Detail
MDR analysis failed to detect any significant interaction among these five loci in the occurrence of... 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
-
Genome
hg19
Position
chr17:78,358,945-78,358,945
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.311604253351826E-4
Chromosome Counts in All Race (ExAC)
121402
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6474193176389187E-5
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