chr6:52237046:T>C Detail (hg38) (IL17F)

Information

Genome

Assembly Position
hg19 chr6:52,101,844-52,101,844 View the variant detail on this assembly version.
hg38 chr6:52,237,046-52,237,046

HGVS

Type Transcript Protein
RefSeq NM_052872.3:c.377A>G NP_443104.1:p.Glu126Gly
Ensemble ENST00000336123.5:c.377A>G ENST00000336123.5:p.Glu126Gly
ENST00000699946.1:c.377A>G ENST00000699946.1:p.Glu126Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.007
ToMMo:0.009
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.008

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606496 OMIM
HGNC 16404 HGNC
Ensembl ENSG00000112116 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv25371031 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts Candidiasis, familial, 6 germline Detail
Benign 2016-03-29 criteria provided, single submitter not specified germline Detail
Benign 2021-06-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.100 asthma We investigated the possible association among asthma and IL-17A -197G/A (rs2275... BeFree 24393079 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_052872.4(IL17F):c.377A>G (p.Glu126Gly) AND Candidiasis, familial, 6 ClinVar Detail
NM_052872.4(IL17F):c.377A>G (p.Glu126Gly) AND not specified ClinVar Detail
NM_052872.4(IL17F):c.377A>G (p.Glu126Gly) AND not provided ClinVar Detail
We investigated the possible association among asthma and IL-17A -197G/A (rs2275913), IL-17F 7488A/G... 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
rs2397084 dbSNP
Genome
hg38
Position
chr6:52,237,046-52,237,046
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
138.51
Standard deviation of sample read depth (HGVD)
66.85
Number of reference allele (HGVD)
2402
Number of alternative allele (HGVD)
18
Allele Frequency (HGVD)
0.00743801652892562
Gene Symbol (HGVD)
IL17F
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))
rs2397084
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0086
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
144
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
69
East Asian Heterozygous Counts (ExAC)
69
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.007991660875608061
Chromosome Counts in All Race (ExAC)
121328
Allele Counts in All Race (ExAC)
8321
Heterozygous Counts in All Race (ExAC)
7563
Homozygous Counts in All Race (ExAC)
379
Allele Frequency in All Race (ExAC)
0.06858268495318476
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