chr14:35402754:G>A Detail (hg38) (NFKBIA)

Information

Genome

Assembly Position
hg19 chr14:35,871,960-35,871,960 View the variant detail on this assembly version.
hg38 chr14:35,402,754-35,402,754

HGVS

Type Transcript Protein
RefSeq NM_020529.2:c.636+17C>T
Ensemble ENST00000216797.10:c.636+17C>T
ENST00000557140.5:c.636+17C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.045
ToMMo:0.047
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.027

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 164008 OMIM
HGNC 7797 HGNC
Ensembl ENSG00000100906 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv50417670 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, single submitter ectodermal dysplasia and immunodeficiency 2 germline Detail
Benign 2021-06-19 criteria provided, single submitter not provided germline Detail
Benign 2023-11-12 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Wheezing IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a si... BeFree 25326706 Detail
<0.001 Wheezing IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a si... BeFree 25326706 Detail
<0.001 Wheezing IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a si... BeFree 25326706 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020529.3(NFKBIA):c.636+17C>T AND Ectodermal dysplasia and immunodeficiency 2 ClinVar Detail
NM_020529.3(NFKBIA):c.636+17C>T AND not provided ClinVar Detail
NM_020529.3(NFKBIA):c.636+17C>T AND not specified ClinVar Detail
IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increase... DisGeNET Detail
IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increase... DisGeNET Detail
IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increase... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2233419 dbSNP
Genome
hg38
Position
chr14:35,402,754-35,402,754
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
837
Mean of sample read depth (HGVD)
108.50
Standard deviation of sample read depth (HGVD)
50.70
Number of reference allele (HGVD)
1598
Number of alternative allele (HGVD)
76
Allele Frequency (HGVD)
0.04540023894862605
Gene Symbol (HGVD)
NFKBIA
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))
rs2233419
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0467
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
783
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
235
East Asian Heterozygous Counts (ExAC)
231
East Asian Homozygous Counts (ExAC)
2
East Asian Allele Frequency (ExAC)
0.02716763005780347
Chromosome Counts in All Race (ExAC)
121260
Allele Counts in All Race (ExAC)
18951
Heterozygous Counts in All Race (ExAC)
15657
Homozygous Counts in All Race (ExAC)
1647
Allele Frequency in All Race (ExAC)
0.1562840178129639
Genome browser