chr17:40465910:T>C Detail (hg19) (STAT3)

Information

Genome

Assembly Position
hg19 chr17:40,465,910-40,465,910
hg38 chr17:42,313,892-42,313,892 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003150.3:c.*1853A>G
NM_139276.2:c.*1853A>G
Ensemble ENST00000678906.1:c.*1853A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.370
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 102582 OMIM
HGNC 11364 HGNC
Ensembl ENSG00000168610 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57808469 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-13 criteria provided, single submitter Hyper-IgE recurrent infection syndrome 1, autosomal dominant germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 thyroiditis We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs... BeFree 24081513 Detail
<0.001 Graves Disease We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs... BeFree 24081513 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_139276.3(STAT3):c.*1853A>G AND Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar Detail
We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, ... DisGeNET Detail
We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, ... 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
rs1053005 dbSNP
Genome
hg19
Position
chr17:40,465,910-40,465,910
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))
rs1053005
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3699
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6199
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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