chr2:191839976:C>T Detail (hg19) (STAT1)

Information

Genome

Assembly Position
hg19 chr2:191,839,976-191,839,976
hg38 chr2:190,975,250-190,975,250 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_007315.3:c.2136-318G>A
Ensemble ENST00000361099.8:c.2136-318G>A
ENST00000409465.5:c.2136-318G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.338
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 600555 OMIM
HGNC 11362 HGNC
Ensembl ENSG00000115415 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9928795 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-06-19 criteria provided, single submitter 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 Acute Q fever Single nucleotide polymorphisms (SNPs) in the IFNG (rs2430561/rs1861493), STAT1 ... BeFree 25577174 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007315.4(STAT1):c.2136-318G>A AND not provided ClinVar Detail
NM_007315.4(STAT1):c.2136-318G>A AND not specified ClinVar Detail
Single nucleotide polymorphisms (SNPs) in the IFNG (rs2430561/rs1861493), STAT1 (rs1914408), and VDR... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1914408 dbSNP
Genome
hg19
Position
chr2:191,839,976-191,839,976
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))
rs1914408
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3383
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5670
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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