chr4:102583148:C>T Detail (hg38) (NFKB1)

Information

Genome

Assembly Position
hg19 chr4:103,504,305-103,504,305 View the variant detail on this assembly version.
hg38 chr4:102,583,148-102,583,148

HGVS

Type Transcript Protein
RefSeq NM_003998.3:c.927+191C>T
NM_001165412.1:c.924+191C>T
NM_001319226.1:c.924+191C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.361
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
Type Database ID Link
Gene MIM 164011 OMIM
HGNC 7794 HGNC
Ensembl ENSG00000109320 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv18081359 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.059 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.002 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.010 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.150 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
0.024 coronary artery disease Statistically significant results found for the various QTs and SNPs were: rs377... BeFree 22116284 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003998.4(NFKB1):c.927+191C>T AND not provided ClinVar Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail
Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528, rs23... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1005819 dbSNP
Genome
hg38
Position
chr4:102,583,148-102,583,148
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1005819
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3608
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6047
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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