chr3:184091301:C>T Detail (hg19) (THPO)

Information

Genome

Assembly Position
hg19 chr3:184,091,301-184,091,301
hg38 chr3:184,373,513-184,373,513 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001177597.2:c.298G>A NP_001171068.1:p.Gly100Arg
NM_001177598.2:c.298G>A NP_001171069.1:p.Gly100Arg
NM_001290022.1:c.298G>A NP_001276951.1:p.Gly100Arg
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
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600044 OMIM
HGNC 11795 HGNC
Ensembl ENSG00000090534 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Graves Disease Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591... BeFree 23242661 Detail
Annotation

Annotations

DescrptionSourceLinks
Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591C and T-833C), and E... 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
-
Genome
hg19
Position
chr3:184,091,301-184,091,301
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121110
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4770869457517957E-5
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