chr14:35405648:T>C Detail (hg38) (NFKBIA)

Information

Genome

Assembly Position
hg19 chr14:35,874,854-35,874,854 View the variant detail on this assembly version.
hg38 chr14:35,405,648-35,405,648

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.140
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-19 criteria provided, single submitter ectodermal dysplasia and immunodeficiency 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Respiratory Syncytial Virus Infections In this study, we quantified the functional impact of NFKBIA promoter polymorphi... BeFree 23487427 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000014.9:g.35405648T>C AND Ectodermal dysplasia and immunodeficiency 2 ClinVar Detail
In this study, we quantified the functional impact of NFKBIA promoter polymorphisms (rs3138053, rs22... DisGeNET Detail
Gene
-
dbSNP
rs3138053 dbSNP
Genome
hg38
Position
chr14:35,405,648-35,405,648
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs3138053
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1403
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2351
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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