chr19:10352442:G>C Detail (hg38) (TYK2)

Information

Genome

Assembly Position
hg19 chr19:10,463,118-10,463,118 View the variant detail on this assembly version.
hg38 chr19:10,352,442-10,352,442

HGVS

Type Transcript Protein
RefSeq NM_003331.4:c.3310C>G NP_003322.3:p.Pro1104Ala
Ensemble ENST00000524462.5:c.2755C>G ENST00000524462.5:p.Pro919Ala
ENST00000525621.6:c.3310C>G ENST00000525621.6:p.Pro1104Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 176941 OMIM
HGNC 12440 HGNC
Ensembl ENSG00000105397 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv404503117 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2014-04-28 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign Likely benign 2024-01-31 criteria provided, multiple submitters, no conflicts immunodeficiency 35 germline Detail
Likely benign no assertion criteria provided not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Autoimmune Diseases In this study, we characterized two rare Tyk2 variants, I684S and P1104A, which ... BeFree 23359498 Detail
0.241 rheumatoid arthritis Genetics of rheumatoid arthritis contributes to biology and drug discovery. GWASCAT 24390342 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) AND not specified ClinVar Detail
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) AND Immunodeficiency 35 ClinVar Detail
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) AND not provided ClinVar Detail
In this study, we characterized two rare Tyk2 variants, I684S and P1104A, which have been associated... DisGeNET Detail
Genetics of rheumatoid arthritis contributes to biology and drug discovery. 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
rs34536443 dbSNP
Genome
hg38
Position
chr19:10,352,442-10,352,442
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
118878
Allele Counts in All Race (ExAC)
3250
Heterozygous Counts in All Race (ExAC)
3120
Homozygous Counts in All Race (ExAC)
65
Allele Frequency in All Race (ExAC)
0.027338952539578392
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