chr14:80955913:G>C Detail (hg38) (TSHR, CEP128)

Information

Genome

Assembly Position
hg19 chr14:81,422,257-81,422,257 View the variant detail on this assembly version.
hg38 chr14:80,955,913-80,955,913

HGVS

Type Transcript Protein
RefSeq NM_000369.2:c.170+63G>C
NM_001018036.2:c.170+63G>C
NM_001142626.2:c.170+63G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.244
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 603372 OMIM
HGNC 12373 HGNC
Ensembl ENSG00000165409 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51477982 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.145 Graves Disease The AA genotype of PTPN22 rs3789604 and AA genotype of FCRL3 rs7528684 were corr... BeFree 19438904 Detail
0.298 Graves Disease In addition, the TSHR rs2239610 SNP is related to the severity of Graves' diseas... BeFree 19438904 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000369.5(TSHR):c.170+63G>C AND not provided ClinVar Detail
The AA genotype of PTPN22 rs3789604 and AA genotype of FCRL3 rs7528684 were correlated with a reduce... DisGeNET Detail
In addition, the TSHR rs2239610 SNP is related to the severity of Graves' disease. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2239610 dbSNP
Genome
hg38
Position
chr14:80,955,913-80,955,913
Variant Type
snv
Reference Allele
G
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))
rs2239610
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2443
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4095
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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