chr10:100218126:C>T Detail (hg38) (CHUK)

Information

Genome

Assembly Position
hg19 chr10:101,977,883-101,977,883 View the variant detail on this assembly version.
hg38 chr10:100,218,126-100,218,126

HGVS

Type Transcript Protein
RefSeq NM_001278.4:c.802G>A NP_001269.3:p.Val268Ile
NM_001320928.1:c.802G>A NP_001307857.1:p.Val268Ile
Ensemble ENST00000370397.8:c.802G>A ENST00000370397.8:p.Val268Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.481
ToMMo:0.476
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.487

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600664 OMIM
HGNC 1974 HGNC
Ensembl ENSG00000213341 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40397522 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 not provided germline Detail
Benign 2024-01-24 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Wheezing Of the remaining 15 SNPs, for seven we found significant relationships between g... BeFree 25102764 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001278.5(CHUK):c.802G>A (p.Val268Ile) AND not provided ClinVar Detail
NM_001278.5(CHUK):c.802G>A (p.Val268Ile) AND not specified ClinVar Detail
Of the remaining 15 SNPs, for seven we found significant relationships between genotype and endotoxi... 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
rs2230804 dbSNP
Genome
hg38
Position
chr10:100,218,126-100,218,126
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1206
Mean of sample read depth (HGVD)
86.41
Standard deviation of sample read depth (HGVD)
40.11
Number of reference allele (HGVD)
1253
Number of alternative allele (HGVD)
1159
Allele Frequency (HGVD)
0.480514096185738
Gene Symbol (HGVD)
CHUK
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))
rs2230804
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4764
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7985
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
4194
East Asian Heterozygous Counts (ExAC)
2172
East Asian Homozygous Counts (ExAC)
1011
East Asian Allele Frequency (ExAC)
0.48654292343387473
Chromosome Counts in All Race (ExAC)
121118
Allele Counts in All Race (ExAC)
58033
Heterozygous Counts in All Race (ExAC)
28883
Homozygous Counts in All Race (ExAC)
14575
Allele Frequency in All Race (ExAC)
0.4791443055532621
Genome browser