chr2:204825346:C>T Detail (hg19) (ICOS)

Information

Genome

Assembly Position
hg19 chr2:204,825,346-204,825,346
hg38 chr2:203,960,623-203,960,623 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_012092.3:c.*1024C>T
Ensemble ENST00000316386.11:c.*1024C>T
ENST00000435193.1:c.*1032C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.020
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 604558 OMIM
HGNC 5351 HGNC
Ensembl ENSG00000163600 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10208482 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-06 criteria provided, single submitter Immunodeficiency, common variable, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Generalized vitiligo Examination of five SNPs in the CTLA4 gene (rs1863800, rs231775, rs3087243, rs11... BeFree 18200060 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_012092.4(ICOS):c.*1024C>T AND Immunodeficiency, common variable, 1 ClinVar Detail
Examination of five SNPs in the CTLA4 gene (rs1863800, rs231775, rs3087243, rs11571302, rs11571297, ... 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
rs10932037 dbSNP
Genome
hg19
Position
chr2:204,825,346-204,825,346
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))
rs10932037
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0201
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
337
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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