chr2:162272314:T>C Detail (hg38) (IFIH1)

Information

Genome

Assembly Position
hg19 chr2:163,128,824-163,128,824 View the variant detail on this assembly version.
hg38 chr2:162,272,314-162,272,314

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000648433.1:c.2411A>G ENST00000648433.1:p.His804Arg
ENST00000649979.2:c.2528A>G ENST00000649979.2:p.His843Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.383
ToMMo:0.386
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.312

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606951 OMIM
HGNC 18873 HGNC
Ensembl ENSG00000115267 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9277322 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-11-12 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-08-10 criteria provided, multiple submitters, no conflicts Singleton-Merten syndrome 1 germline unknown Detail
Benign 2024-02-01 criteria provided, single submitter Singleton-Merten syndrome 1,Aicardi-Goutieres syndrome 7 germline Detail
Benign 2024-02-01 criteria provided, single submitter Singleton-Merten syndrome 1,Aicardi-Goutieres syndrome 7 germline Detail
Benign 2021-03-18 criteria provided, single submitter not provided germline unknown Detail
Benign 2021-08-10 criteria provided, single submitter Aicardi-Goutieres syndrome 7 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.167 Diabetes Mellitus, Insulin-Dependent In conclusion, IFIH1 rs3747517, but not rs1990760 polymorphism, plays an importa... BeFree 22053898 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) AND not specified ClinVar Detail
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) AND Singleton-Merten syndrome 1 ClinVar Detail
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) AND multiple conditions ClinVar Detail
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) AND multiple conditions ClinVar Detail
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) AND not provided ClinVar Detail
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) AND Aicardi-Goutieres syndrome 7 ClinVar Detail
In conclusion, IFIH1 rs3747517, but not rs1990760 polymorphism, plays an important role in type 1 di... 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
rs3747517 dbSNP
Genome
hg38
Position
chr2:162,272,314-162,272,314
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
107.26
Standard deviation of sample read depth (HGVD)
43.91
Number of reference allele (HGVD)
1492
Number of alternative allele (HGVD)
928
Allele Frequency (HGVD)
0.3834710743801653
Gene Symbol (HGVD)
IFIH1
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))
rs3747517
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3856
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6463
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8540
East Asian Allele Counts (ExAC)
2661
East Asian Heterozygous Counts (ExAC)
1835
East Asian Homozygous Counts (ExAC)
413
East Asian Allele Frequency (ExAC)
0.3115925058548009
Chromosome Counts in All Race (ExAC)
120302
Allele Counts in All Race (ExAC)
81351
Heterozygous Counts in All Race (ExAC)
24615
Homozygous Counts in All Race (ExAC)
28368
Allele Frequency in All Race (ExAC)
0.6762231716845938
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