chr6:12294025:A>G Detail (hg38) (EDN1)

Information

Genome

Assembly Position
hg19 chr6:12,294,258-12,294,258 View the variant detail on this assembly version.
hg38 chr6:12,294,025-12,294,025

HGVS

Type Transcript Protein
RefSeq NM_001168319.1:c.318A>G NP_001161791.1:p.Glu106=
NM_001955.4:c.318A>G NP_001946.3:p.Glu106=
Ensemble ENST00000379375.6:c.318A>G ENST00000379375.6:p.Glu106=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.981
ToMMo:0.982
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.976

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 131240 OMIM
HGNC 3176 HGNC
Ensembl ENSG00000078401 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24300095 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-07-30 criteria provided, single submitter Auriculocondylar syndrome 3 germline Detail
Benign 2024-01-29 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.040 Acute coronary syndrome Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs... BeFree 24035903 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001955.5(EDN1):c.318A>G (p.Glu106=) AND Auriculocondylar syndrome 3 ClinVar Detail
NM_001955.5(EDN1):c.318A>G (p.Glu106=) AND not provided ClinVar Detail
Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs5369) of eNOS and ED... 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
rs5369 dbSNP
Genome
hg38
Position
chr6:12,294,025-12,294,025
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
72.63
Standard deviation of sample read depth (HGVD)
32.51
Number of reference allele (HGVD)
46
Number of alternative allele (HGVD)
2368
Allele Frequency (HGVD)
0.9809444904722452
Gene Symbol (HGVD)
EDN1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs5369
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9823
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16463
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
8447
East Asian Heterozygous Counts (ExAC)
205
East Asian Homozygous Counts (ExAC)
4121
East Asian Allele Frequency (ExAC)
0.9760804252368847
Chromosome Counts in All Race (ExAC)
121396
Allele Counts in All Race (ExAC)
109589
Heterozygous Counts in All Race (ExAC)
10469
Homozygous Counts in All Race (ExAC)
49560
Allele Frequency in All Race (ExAC)
0.9027397937329071
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