TG (thyroglobulin) - Rat Genome Database

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Gene: TG (thyroglobulin) Homo sapiens
Analyze
Symbol: TG
Name: thyroglobulin
RGD ID: 735819
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Involved in thyroid gland development and thyroid hormone generation. Localizes to extracellular space. Implicated in Graves' disease; autoimmune thyroiditis; goiter; and thyroid dyshormonogenesis 3. Biomarker of Graves' disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AITD3; TGN
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8132,866,958 - 133,134,903 (+)EnsemblGRCh38hg38GRCh38
GRCh388132,866,943 - 133,134,902 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,879,203 - 134,147,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,948,387 - 134,216,325 (+)NCBINCBI36hg18NCBI36
Build 348133,948,386 - 134,216,325NCBI
Celera8130,055,026 - 130,324,401 (+)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8129,197,896 - 129,466,621 (+)NCBIHuRef
CHM1_18133,919,854 - 134,187,744 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1371467   PMID:1639210   PMID:1939080   PMID:2760035   PMID:2914619   PMID:2991855   PMID:3016640   PMID:3211159   PMID:3595599   PMID:3681978   PMID:3967888   PMID:3971976  
PMID:4006519   PMID:4043966   PMID:7593451   PMID:7793989   PMID:8094490   PMID:8269951   PMID:8530385   PMID:8615697   PMID:8626858   PMID:8797845   PMID:9006956   PMID:9186272  
PMID:9287346   PMID:9328354   PMID:9492085   PMID:10049727   PMID:10199792   PMID:10448091   PMID:10487692   PMID:10524569   PMID:10636893   PMID:11082042   PMID:11124863   PMID:11294872  
PMID:11581009   PMID:11916630   PMID:11935320   PMID:12022704   PMID:12387814   PMID:12477859   PMID:12477932   PMID:12679418   PMID:12709678   PMID:12804099   PMID:12819023   PMID:12973666  
PMID:14557492   PMID:14633662   PMID:14718574   PMID:14764582   PMID:15070908   PMID:15272924   PMID:15494458   PMID:15562032   PMID:15579752   PMID:15579800   PMID:15769978   PMID:15785246  
PMID:16230285   PMID:16260629   PMID:16271015   PMID:16344560   PMID:16403815   PMID:16421571   PMID:16477365   PMID:16646680   PMID:16679516   PMID:17244789   PMID:17278897   PMID:17526951  
PMID:17532758   PMID:17644307   PMID:17671725   PMID:17854396   PMID:17902201   PMID:17911408   PMID:18166820   PMID:18243140   PMID:18271683   PMID:18385936   PMID:18514160   PMID:18566446  
PMID:18631008   PMID:18636294   PMID:18687776   PMID:18755875   PMID:19034705   PMID:19194833   PMID:19240061   PMID:19404338   PMID:19416000   PMID:19438904   PMID:19438905   PMID:19509106  
PMID:19633549   PMID:19730683   PMID:19776016   PMID:19837936   PMID:20089614   PMID:20173019   PMID:20182447   PMID:20215770   PMID:20353937   PMID:20379614   PMID:20486066   PMID:20573721  
PMID:20864102   PMID:20960158   PMID:20972722   PMID:20972728   PMID:21039721   PMID:21372558   PMID:21476894   PMID:21636579   PMID:21646855   PMID:21757724   PMID:21873635   PMID:21958696  
PMID:22098450   PMID:22136265   PMID:22136267   PMID:22170797   PMID:22259066   PMID:22265031   PMID:22517745   PMID:22561518   PMID:22784463   PMID:22832960   PMID:23164529   PMID:23190420  
PMID:23242039   PMID:23345097   PMID:23360821   PMID:23455760   PMID:23489940   PMID:23612905   PMID:23826916   PMID:23886742   PMID:23900865   PMID:23933148   PMID:23949896   PMID:24057177  
PMID:24064687   PMID:24341425   PMID:24460082   PMID:24565964   PMID:24599957   PMID:24735383   PMID:24762031   PMID:25213012   PMID:25536321   PMID:25607926   PMID:25633667   PMID:25893415  
PMID:25895485   PMID:26099577   PMID:26595189   PMID:26777470   PMID:26851767   PMID:26896794   PMID:26963610   PMID:27236916   PMID:27305979   PMID:27525530   PMID:28137736   PMID:28322461  
PMID:28396984   PMID:28454525   PMID:28493284   PMID:28558632   PMID:28675712   PMID:28743746   PMID:28855631   PMID:28942902   PMID:29275168   PMID:29720101   PMID:29953410   PMID:30139952  
PMID:31421134   PMID:31444962   PMID:31525728   PMID:31586073   PMID:31867598   PMID:32025030  


Genomics

Comparative Map Data
TG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8132,866,958 - 133,134,903 (+)EnsemblGRCh38hg38GRCh38
GRCh388132,866,943 - 133,134,902 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,879,203 - 134,147,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,948,387 - 134,216,325 (+)NCBINCBI36hg18NCBI36
Build 348133,948,386 - 134,216,325NCBI
Celera8130,055,026 - 130,324,401 (+)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8129,197,896 - 129,466,621 (+)NCBIHuRef
CHM1_18133,919,854 - 134,187,744 (+)NCBICHM1_1
Tg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391566,542,606 - 66,722,570 (+)NCBIGRCm39mm39
GRCm39 Ensembl1566,542,602 - 66,722,570 (+)Ensembl
GRCm381566,670,754 - 66,850,721 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1566,670,753 - 66,850,721 (+)EnsemblGRCm38mm10GRCm38
MGSCv371566,502,332 - 66,682,283 (+)NCBIGRCm37mm9NCBIm37
MGSCv361566,500,461 - 66,680,276 (+)NCBImm8
Celera1568,203,057 - 68,383,403 (+)NCBICelera
Cytogenetic Map15D2NCBI
cM Map1529.3NCBI
Tg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2798,418,293 - 98,603,210 (+)NCBI
Rnor_6.0 Ensembl7107,467,260 - 107,652,899 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07107,467,260 - 107,652,897 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07107,399,165 - 107,602,400 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47104,035,776 - 104,220,754 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17104,070,005 - 104,254,984 (+)NCBI
Celera794,970,745 - 95,154,294 (+)NCBICelera
Cytogenetic Map7q34NCBI
Tg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554617,487,322 - 7,703,363 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554617,487,268 - 7,703,458 (+)NCBIChiLan1.0ChiLan1.0
TG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18132,495,516 - 132,764,918 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8132,495,516 - 132,764,918 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08129,519,431 - 129,789,699 (+)NCBIMhudiblu_PPA_v0panPan3
TG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11329,350,726 - 29,597,908 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1329,350,688 - 29,598,040 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1329,323,440 - 29,571,872 (+)NCBI
ROS_Cfam_1.01329,705,326 - 29,954,007 (+)NCBI
UMICH_Zoey_3.11329,431,959 - 29,680,604 (+)NCBI
UNSW_CanFamBas_1.01329,532,359 - 29,781,038 (+)NCBI
UU_Cfam_GSD_1.01329,844,402 - 30,129,590 (+)NCBI
Tg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053038,759,400 - 8,970,073 (-)NCBI
SpeTri2.0NW_00493647016,185,557 - 16,396,172 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl48,158,396 - 8,382,435 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.148,158,395 - 8,382,435 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.248,078,824 - 8,424,733 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TG
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18127,293,797 - 127,567,218 (+)NCBI
ChlSab1.1 Ensembl8127,293,834 - 127,567,771 (+)Ensembl
Tg
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473522,864,373 - 23,083,457 (-)NCBI

Position Markers
D8S378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,036,531 - 134,036,685UniSTSGRCh37
Build 368134,105,713 - 134,105,867RGDNCBI36
Celera8130,213,906 - 130,214,048RGD
Cytogenetic Map8q24UniSTS
HuRef8129,356,309 - 129,356,455UniSTS
Marshfield Genetic Map8147.04UniSTS
Marshfield Genetic Map8147.04RGD
D8S1740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,975,863 - 133,976,045UniSTSGRCh37
Build 368134,045,045 - 134,045,227RGDNCBI36
Celera8130,153,181 - 130,153,348RGD
Cytogenetic Map8q24UniSTS
HuRef8129,295,652 - 129,295,823UniSTS
Marshfield Genetic Map8147.04UniSTS
Marshfield Genetic Map8147.04RGD
Genethon Genetic Map8145.9UniSTS
deCODE Assembly Map8143.64UniSTS
D8S529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,099,259 - 134,099,406UniSTSGRCh37
GRCh378134,099,129 - 134,099,390UniSTSGRCh37
Build 368134,168,311 - 134,168,572RGDNCBI36
Celera8130,276,550 - 130,276,692UniSTS
Celera8130,276,420 - 130,276,676RGD
Cytogenetic Map8q24UniSTS
HuRef8129,418,968 - 129,419,105UniSTS
HuRef8129,418,838 - 129,419,089UniSTS
Marshfield Genetic Map8148.12UniSTS
Marshfield Genetic Map8148.12RGD
Genethon Genetic Map8145.9UniSTS
TNG Radiation Hybrid Map865205.0UniSTS
deCODE Assembly Map8144.75UniSTS
Stanford-G3 RH Map84117.0UniSTS
GeneMap99-GB4 RH Map8515.57UniSTS
Whitehead-YAC Contig Map8 UniSTS
GeneMap99-G3 RH Map84207.0UniSTS
D8S284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,511,698 - 131,511,966UniSTSGRCh37
Build 368131,580,880 - 131,581,148RGDNCBI36
Celera8127,689,049 - 127,689,303RGD
Cytogenetic Map8q24UniSTS
HuRef8126,831,875 - 126,832,139UniSTS
Marshfield Genetic Map8143.82RGD
Marshfield Genetic Map8143.82UniSTS
Genethon Genetic Map8142.7UniSTS
deCODE Assembly Map8139.79UniSTS
GeneMap99-GB4 RH Map8504.03UniSTS
Whitehead-RH Map8655.9UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81511.5UniSTS
D1S466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371182,303,632 - 182,303,800UniSTSGRCh37
GRCh371182,303,599 - 182,303,809UniSTSGRCh37
Build 361180,570,255 - 180,570,423RGDNCBI36
Celera8130,236,304 - 130,237,600UniSTS
Celera1155,414,746 - 155,414,910RGD
Celera1155,414,713 - 155,414,919UniSTS
Cytogenetic Map1q25.3-q31.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map8q24UniSTS
HuRef1153,538,876 - 153,539,074UniSTS
HuRef1153,538,909 - 153,539,065UniSTS
HuRef350,367,626 - 50,368,054UniSTS
Marshfield Genetic Map1198.3UniSTS
Marshfield Genetic Map1198.3RGD
Genethon Genetic Map1203.0UniSTS
TNG Radiation Hybrid Map186222.0UniSTS
deCODE Assembly Map1183.53UniSTS
GeneMap99-GB4 RH Map1634.34UniSTS
Whitehead-RH Map1792.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11563.6UniSTS
GeneMap99-G3 RH Map17137.0UniSTS
RH11483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,092 - 134,049,220UniSTSGRCh37
Build 368134,118,274 - 134,118,402RGDNCBI36
Celera8130,226,455 - 130,226,583RGD
Cytogenetic Map8q24UniSTS
HuRef8129,368,877 - 129,369,005UniSTS
GeneMap99-GB4 RH Map8516.78UniSTS
D17S1775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,898 - 134,050,003UniSTSGRCh37
Build 368134,119,080 - 134,119,185RGDNCBI36
Celera8130,227,261 - 130,227,366RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,683 - 129,369,788UniSTS
G43055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,040,015 - 134,040,277UniSTSGRCh37
Build 368134,109,197 - 134,109,459RGDNCBI36
Celera8130,217,378 - 130,217,640RGD
Cytogenetic Map8q24UniSTS
HuRef8129,359,785 - 129,360,047UniSTS
G60100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,921 - 134,050,113UniSTSGRCh37
Build 368134,119,103 - 134,119,295RGDNCBI36
Celera8130,227,284 - 130,227,476RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,706 - 129,369,898UniSTS
TNG Radiation Hybrid Map865104.0UniSTS
G60189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,039,976 - 134,040,178UniSTSGRCh37
Build 368134,109,158 - 134,109,360RGDNCBI36
Celera8130,217,339 - 130,217,541RGD
Cytogenetic Map8q24UniSTS
HuRef8129,359,746 - 129,359,948UniSTS
TNG Radiation Hybrid Map865099.0UniSTS
G60569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,975,888 - 133,976,078UniSTSGRCh37
Build 368134,045,070 - 134,045,260RGDNCBI36
Celera8130,153,206 - 130,153,381RGD
Cytogenetic Map8q24UniSTS
HuRef8129,295,677 - 129,295,856UniSTS
TNG Radiation Hybrid Map864975.0UniSTS
RH123517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,040,018 - 134,040,157UniSTSGRCh37
Build 368134,109,200 - 134,109,339RGDNCBI36
Celera8130,217,381 - 130,217,520RGD
Cytogenetic Map8q24UniSTS
HuRef8129,359,788 - 129,359,927UniSTS
D8S1538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,066,025 - 134,066,145UniSTSGRCh37
Build 368134,135,207 - 134,135,327RGDNCBI36
Celera8130,243,387 - 130,243,507RGD
Cytogenetic Map8q24UniSTS
HuRef8129,385,807 - 129,385,927UniSTS
GDB:181542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,878,925 - 133,879,317UniSTSGRCh37
Build 368133,948,107 - 133,948,499RGDNCBI36
Celera8130,054,746 - 130,055,138RGD
Cytogenetic Map8q24UniSTS
HuRef8129,197,616 - 129,198,008UniSTS
SHGC-144869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,110,099 - 134,110,405UniSTSGRCh37
Build 368134,179,281 - 134,179,587RGDNCBI36
Celera8130,287,386 - 130,287,692RGD
Cytogenetic Map8q24UniSTS
HuRef8129,429,798 - 129,430,104UniSTS
TNG Radiation Hybrid Map865225.0UniSTS
SHGC-146247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,994,571 - 133,994,848UniSTSGRCh37
Build 368134,063,753 - 134,064,030RGDNCBI36
Celera8130,171,876 - 130,172,153RGD
Cytogenetic Map8q24UniSTS
HuRef8129,314,350 - 129,314,627UniSTS
TNG Radiation Hybrid Map865061.0UniSTS
SHGC-149000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,901,988 - 133,902,337UniSTSGRCh37
Build 368133,971,170 - 133,971,519RGDNCBI36
Celera8130,077,809 - 130,078,158RGD
Cytogenetic Map8q24UniSTS
HuRef8129,220,680 - 129,221,029UniSTS
TNG Radiation Hybrid Map864999.0UniSTS
WI-3009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,992,189 - 133,992,363UniSTSGRCh37
Build 368134,061,371 - 134,061,545RGDNCBI36
Celera8130,169,494 - 130,169,668RGD
Cytogenetic Map8q24UniSTS
HuRef8129,311,968 - 129,312,142UniSTS
Whitehead-RH Map8671.7UniSTS
G32172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,965,454 - 133,965,619UniSTSGRCh37
Build 368134,034,636 - 134,034,801RGDNCBI36
Celera8130,142,761 - 130,142,926RGD
Cytogenetic Map8q24UniSTS
HuRef8129,285,232 - 129,285,397UniSTS
SHGC-101673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,917,561 - 133,917,831UniSTSGRCh37
Build 368133,986,743 - 133,987,013RGDNCBI36
Celera8130,093,383 - 130,093,653RGD
Cytogenetic Map8q24UniSTS
HuRef8129,236,131 - 129,236,401UniSTS
TNG Radiation Hybrid Map865022.0UniSTS
KS615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,969,962 - 133,970,131UniSTSGRCh37
Build 368134,039,144 - 134,039,313RGDNCBI36
Celera8130,147,269 - 130,147,450RGD
HuRef8129,289,740 - 129,289,921UniSTS
PMC31324P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,146,869 - 134,147,280UniSTSGRCh37
Build 368134,216,051 - 134,216,462RGDNCBI36
Celera8130,324,127 - 130,324,538RGD
Cytogenetic Map8q24UniSTS
HuRef8129,466,347 - 129,466,758UniSTS
HSC06D062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,916 - 134,050,119UniSTSGRCh37
Build 368134,119,098 - 134,119,301RGDNCBI36
Celera8130,227,279 - 130,227,482RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,701 - 129,369,904UniSTS
GeneMap99-GB4 RH Map8501.0UniSTS
Whitehead-RH Map8659.7UniSTS
RH47284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,916 - 134,050,038UniSTSGRCh37
Build 368134,119,098 - 134,119,220RGDNCBI36
Celera8130,227,279 - 130,227,401RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,701 - 129,369,823UniSTS
GeneMap99-GB4 RH Map8499.23UniSTS
NCBI RH Map81577.5UniSTS
IB3077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,916 - 134,050,221UniSTSGRCh37
Build 368134,119,098 - 134,119,403RGDNCBI36
Celera8130,227,279 - 130,227,584RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,701 - 129,370,006UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
Whitehead-RH Map8680.7UniSTS
NCBI RH Map81520.9UniSTS
G20379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,040,833 - 134,041,024UniSTSGRCh37
Build 368134,110,015 - 134,110,206RGDNCBI36
Celera8130,218,196 - 130,218,387RGD
Cytogenetic Map8q24UniSTS
HuRef8129,360,603 - 129,360,794UniSTS
A005O27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,040,833 - 134,041,024UniSTSGRCh37
Build 368134,110,015 - 134,110,206RGDNCBI36
Celera8130,218,196 - 130,218,387RGD
Cytogenetic Map8q24UniSTS
HuRef8129,360,603 - 129,360,794UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
NCBI RH Map81518.7UniSTS
RH35804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,040,073 - 134,040,213UniSTSGRCh37
Build 368134,109,255 - 134,109,395RGDNCBI36
Celera8130,217,436 - 130,217,576RGD
Cytogenetic Map8q24UniSTS
HuRef8129,359,843 - 129,359,983UniSTS
GeneMap99-GB4 RH Map8515.57UniSTS
A002K18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,953 - 134,050,108UniSTSGRCh37
Build 368134,119,135 - 134,119,290RGDNCBI36
Celera8130,227,316 - 130,227,471RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,738 - 129,369,893UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
Whitehead-RH Map8680.2UniSTS
NCBI RH Map81520.9UniSTS
SHGC-32844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,049,313 - 134,049,417UniSTSGRCh37
Build 368134,118,495 - 134,118,599RGDNCBI36
Celera8130,226,676 - 130,226,780RGD
Cytogenetic Map8q24UniSTS
HuRef8129,369,098 - 129,369,202UniSTS
TNG Radiation Hybrid Map865124.0UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
Whitehead-RH Map8680.7UniSTS
NCBI RH Map81520.9UniSTS
GeneMap99-G3 RH Map84267.0UniSTS
AFM116YH8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,900,819 - 133,900,910UniSTSGRCh37
Build 368133,970,001 - 133,970,092RGDNCBI36
Celera8130,076,640 - 130,076,731RGD
Cytogenetic Map8q24UniSTS
HuRef8129,219,511 - 129,219,602UniSTS
Whitehead-YAC Contig Map8 UniSTS
WI-3500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,067,042 - 134,067,166UniSTSGRCh37
Build 368134,136,224 - 134,136,348RGDNCBI36
Celera8130,244,404 - 130,244,528RGD
Cytogenetic Map8q24UniSTS
HuRef8129,386,824 - 129,386,948UniSTS
Whitehead-RH Map8680.7UniSTS
GDB:679375  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
RH71465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,145,836 - 134,146,975UniSTSGRCh37
Celera8130,323,094 - 130,324,233UniSTS
Cytogenetic Map8q24UniSTS
HuRef8129,465,314 - 129,466,453UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
D8S529  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
TNG Radiation Hybrid Map865205.0UniSTS
Stanford-G3 RH Map84117.0UniSTS
GeneMap99-G3 RH Map84207.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5969
Count of miRNA genes:1364
Interacting mature miRNAs:1794
Transcripts:ENST00000220616, ENST00000377869, ENST00000518058, ENST00000518097, ENST00000518108, ENST00000518505, ENST00000519178, ENST00000519294, ENST00000519543, ENST00000520089, ENST00000520197, ENST00000520769, ENST00000521107, ENST00000522523, ENST00000522691, ENST00000522797, ENST00000522809, ENST00000522996, ENST00000523756, ENST00000523901, ENST00000524151, ENST00000542445
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 695 1 1 694
Medium 25 25 14 4 11 1 133 22 17 2 17 26 3 11 77
Low 1484 1653 563 271 1003 123 2482 1138 1730 236 1056 544 149 618 1610
Below cutoff 853 1300 393 290 575 280 1511 1013 1938 158 311 208 16 575 1098 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB052952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF235100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF237421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF255396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF305872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU141420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU141607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU141923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU142151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH137704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH137705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH290756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH298849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN115833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN115834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S40807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U93033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000220616   ⟹   ENSP00000220616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,866,958 - 133,134,899 (+)Ensembl
RefSeq Acc Id: ENST00000518058   ⟹   ENSP00000429164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,962,994 - 132,967,897 (+)Ensembl
RefSeq Acc Id: ENST00000518097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,897,734 - 132,899,000 (+)Ensembl
RefSeq Acc Id: ENST00000518108   ⟹   ENSP00000429761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,017,699 - 133,029,979 (+)Ensembl
RefSeq Acc Id: ENST00000518505   ⟹   ENSP00000429605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,897,748 - 132,906,900 (+)Ensembl
RefSeq Acc Id: ENST00000519178   ⟹   ENSP00000430523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,919,440 - 133,134,827 (+)Ensembl
RefSeq Acc Id: ENST00000519294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,971,827 - 133,003,256 (+)Ensembl
RefSeq Acc Id: ENST00000519543   ⟹   ENSP00000430430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,964,607 - 133,134,903 (+)Ensembl
RefSeq Acc Id: ENST00000520089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,969,486 - 132,983,753 (+)Ensembl
RefSeq Acc Id: ENST00000520197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,969,458 - 133,003,256 (+)Ensembl
RefSeq Acc Id: ENST00000520769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,881,872 - 132,883,240 (+)Ensembl
RefSeq Acc Id: ENST00000521107   ⟹   ENSP00000430161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,113,503 - 133,134,891 (+)Ensembl
RefSeq Acc Id: ENST00000522523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,972,261 - 133,017,967 (+)Ensembl
RefSeq Acc Id: ENST00000522691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,133,387 - 133,134,877 (+)Ensembl
RefSeq Acc Id: ENST00000522797   ⟹   ENSP00000430087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,972,632 - 133,013,683 (+)Ensembl
RefSeq Acc Id: ENST00000522809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,095,159 - 133,113,668 (+)Ensembl
RefSeq Acc Id: ENST00000522996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8133,094,623 - 133,113,496 (+)Ensembl
RefSeq Acc Id: ENST00000523756   ⟹   ENSP00000428628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,897,689 - 133,134,897 (+)Ensembl
RefSeq Acc Id: ENST00000523901   ⟹   ENSP00000427871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,866,958 - 132,881,895 (+)Ensembl
RefSeq Acc Id: ENST00000524151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,971,851 - 133,002,285 (+)Ensembl
RefSeq Acc Id: NM_003235   ⟹   NP_003226
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,958 - 133,134,899 (+)NCBI
GRCh378133,879,149 - 134,147,146 (+)NCBI
Build 368133,948,387 - 134,216,325 (+)NCBI Archive
HuRef8129,197,896 - 129,466,621 (+)ENTREZGENE
CHM1_18133,919,854 - 134,187,744 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251038   ⟹   XP_005251095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 133,134,900 (+)NCBI
GRCh378133,879,149 - 134,147,146 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251040   ⟹   XP_005251097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 133,003,622 (+)NCBI
GRCh378133,879,149 - 134,147,146 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251042   ⟹   XP_005251099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 132,989,976 (+)NCBI
GRCh378133,879,149 - 134,147,146 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716622   ⟹   XP_006716685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 133,134,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013793   ⟹   XP_016869282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 133,134,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013794   ⟹   XP_016869283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 133,134,902 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013795   ⟹   XP_016869284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 133,134,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013796   ⟹   XP_016869285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 133,134,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013797   ⟹   XP_016869286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,951 - 133,134,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013798   ⟹   XP_016869287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 133,090,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013799   ⟹   XP_016869288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 133,003,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013800   ⟹   XP_016869289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,943 - 132,994,804 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_003226 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251095 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251097 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251099 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716685 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869282 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869283 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869284 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869285 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869286 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869287 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869288 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869289 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB22685 (Get FASTA)   NCBI Sequence Viewer  
  AAB50656 (Get FASTA)   NCBI Sequence Viewer  
  AAC51924 (Get FASTA)   NCBI Sequence Viewer  
  AAC95473 (Get FASTA)   NCBI Sequence Viewer  
  AAD50912 (Get FASTA)   NCBI Sequence Viewer  
  AAD51647 (Get FASTA)   NCBI Sequence Viewer  
  AAF64045 (Get FASTA)   NCBI Sequence Viewer  
  AAF71743 (Get FASTA)   NCBI Sequence Viewer  
  AAI27888 (Get FASTA)   NCBI Sequence Viewer  
  AAI40934 (Get FASTA)   NCBI Sequence Viewer  
  AYV87257 (Get FASTA)   NCBI Sequence Viewer  
  AZT78996 (Get FASTA)   NCBI Sequence Viewer  
  AZT78997 (Get FASTA)   NCBI Sequence Viewer  
  BAB20040 (Get FASTA)   NCBI Sequence Viewer  
  BAD92396 (Get FASTA)   NCBI Sequence Viewer  
  BAG64665 (Get FASTA)   NCBI Sequence Viewer  
  BAG64666 (Get FASTA)   NCBI Sequence Viewer  
  BAH12966 (Get FASTA)   NCBI Sequence Viewer  
  CAA26089 (Get FASTA)   NCBI Sequence Viewer  
  CAA26527 (Get FASTA)   NCBI Sequence Viewer  
  CAA29104 (Get FASTA)   NCBI Sequence Viewer  
  CAA29454 (Get FASTA)   NCBI Sequence Viewer  
  CAA29455 (Get FASTA)   NCBI Sequence Viewer  
  CAA29456 (Get FASTA)   NCBI Sequence Viewer  
  EAW92156 (Get FASTA)   NCBI Sequence Viewer  
  EAW92157 (Get FASTA)   NCBI Sequence Viewer  
  EAW92158 (Get FASTA)   NCBI Sequence Viewer  
  P01266 (Get FASTA)   NCBI Sequence Viewer  
  QBA18633 (Get FASTA)   NCBI Sequence Viewer  
  QFU28538 (Get FASTA)   NCBI Sequence Viewer  
  QFU28539 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003226   ⟸   NM_003235
- Peptide Label: precursor
- UniProtKB: P01266 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251097   ⟸   XM_005251040
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_005251099   ⟸   XM_005251042
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_005251095   ⟸   XM_005251038
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006716685   ⟸   XM_006716622
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869283   ⟸   XM_017013794
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869282   ⟸   XM_017013793
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869284   ⟸   XM_017013795
- Peptide Label: isoform X4
- UniProtKB: P01266 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869285   ⟸   XM_017013796
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016869287   ⟸   XM_017013798
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016869288   ⟸   XM_017013799
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016869289   ⟸   XM_017013800
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016869286   ⟸   XM_017013797
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000429761   ⟸   ENST00000518108
RefSeq Acc Id: ENSP00000429164   ⟸   ENST00000518058
RefSeq Acc Id: ENSP00000429605   ⟸   ENST00000518505
RefSeq Acc Id: ENSP00000430523   ⟸   ENST00000519178
RefSeq Acc Id: ENSP00000430430   ⟸   ENST00000519543
RefSeq Acc Id: ENSP00000430161   ⟸   ENST00000521107
RefSeq Acc Id: ENSP00000430087   ⟸   ENST00000522797
RefSeq Acc Id: ENSP00000427871   ⟸   ENST00000523901
RefSeq Acc Id: ENSP00000428628   ⟸   ENST00000523756
RefSeq Acc Id: ENSP00000220616   ⟸   ENST00000220616
Protein Domains
COesterase   Thyroglobulin type-1

Promoters
RGD ID:7214209
Promoter ID:EPDNEW_H12850
Type:multiple initiation site
Name:TG_1
Description:thyroglobulin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12844  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,866,958 - 132,867,018EPDNEW
RGD ID:6850036
Promoter ID:EP14057
Type:single initiation site
Name:HS_TG
Description:Thyroglobulin, TG gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Primer extension
Regulation:thyroid; (induced by or strongly expressed in) TSH
Position:
Human AssemblyChrPosition (strand)Source
Build 368133,948,387 - 133,948,447EPD
RGD ID:6813540
Promoter ID:HG_ACW:78984
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:TG.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368133,962,816 - 133,963,316 (+)MPROMDB
RGD ID:6807058
Promoter ID:HG_KWN:62138
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC003YTX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368133,999,641 - 134,000,141 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003235.4(TG):c.-1623A>G single nucleotide variant Autoimmune thyroid disease 3 [RCV000022790] Chr8:132865378 [GRCh38]
Chr8:133877623 [GRCh37]
Chr8:8q24.22
risk factor
NM_003235.5(TG):c.275-3C>G single nucleotide variant Iodotyrosyl coupling defect [RCV000013526] Chr8:132871345 [GRCh38]
Chr8:133883590 [GRCh37]
Chr8:8q24.22
pathogenic
TG, 138-BP DEL, NT5590 TG, IVS30, +1, G-T deletion Iodotyrosyl coupling defect [RCV000013529] Chr8:8q24.2-q24.3 pathogenic
NM_003235.5(TG):c.1143del (p.Tyr382fs) deletion Iodotyrosyl coupling defect [RCV000013536] Chr8:132886515 [GRCh38]
Chr8:133898760 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.6200-1G>C single nucleotide variant Iodotyrosyl coupling defect [RCV000013538] Chr8:132983349 [GRCh38]
Chr8:133995594 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.638+1G>A single nucleotide variant Congenital hypothyroidism [RCV001270318]|Iodotyrosyl coupling defect [RCV000013543] Chr8:132873222 [GRCh38]
Chr8:133885467 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.7021G>A (p.Gly2341Ser) single nucleotide variant Iodotyrosyl coupling defect [RCV000656568] Chr8:133022135 [GRCh38]
Chr8:134034380 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.2610G>T (p.Gln870His) single nucleotide variant Iodotyrosyl coupling defect [RCV000013527]|Premature ovarian failure [RCV001002732]|not provided [RCV000880032] Chr8:132888417 [GRCh38]
Chr8:133900662 [GRCh37]
Chr8:8q24.22
benign|likely benign|uncertain significance
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) single nucleotide variant Congenital hypothyroidism [RCV001270322]|Iodotyrosyl coupling defect [RCV000013528]|not provided [RCV000579142] Chr8:132923397 [GRCh38]
Chr8:133935642 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.3733T>C (p.Cys1245Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000013530] Chr8:132906786 [GRCh38]
Chr8:133919031 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.5986T>A (p.Cys1996Ser) single nucleotide variant Iodotyrosyl coupling defect [RCV000013531] Chr8:132971804 [GRCh38]
Chr8:133984049 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.886C>T (p.Arg296Ter) single nucleotide variant Congenital hypothyroidism [RCV001270319]|Iodotyrosyl coupling defect [RCV000013532]|not provided [RCV000299644] Chr8:132882609 [GRCh38]
Chr8:133894854 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.5995C>T (p.Arg1999Trp) single nucleotide variant Autoimmune thyroid disease 3 [RCV000013533]|Iodotyrosyl coupling defect [RCV000277644]|not specified [RCV000251808] Chr8:132971813 [GRCh38]
Chr8:133984058 [GRCh37]
Chr8:8q24.22
risk factor|benign|likely benign
NM_003235.5(TG):c.2200T>G (p.Ser734Ala) single nucleotide variant Autoimmune thyroid disease 3 [RCV000013534]|Iodotyrosyl coupling defect [RCV000309189]|not specified [RCV000253912] Chr8:132888007 [GRCh38]
Chr8:133900252 [GRCh37]
Chr8:8q24.22
risk factor|benign|likely benign
NM_003235.5(TG):c.3082A>G (p.Met1028Val) single nucleotide variant Autoimmune thyroid disease 3 [RCV000013535]|Iodotyrosyl coupling defect [RCV000368266]|not specified [RCV000254213] Chr8:132897729 [GRCh38]
Chr8:133909974 [GRCh37]
Chr8:8q24.22
risk factor|benign|likely benign
NM_003235.5(TG):c.6725G>A (p.Arg2242His) single nucleotide variant Autoimmune thyroid disease 3 [RCV001329060]|Iodotyrosyl coupling defect [RCV000013537] Chr8:133017940 [GRCh38]
Chr8:134030185 [GRCh37]
Chr8:8q24.22
pathogenic|likely pathogenic
NM_003235.5(TG):c.3229T>C (p.Cys1077Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000013539] Chr8:132898809 [GRCh38]
Chr8:133911054 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000013540] Chr8:133029907 [GRCh38]
Chr8:134042152 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr) single nucleotide variant Iodotyrosyl coupling defect [RCV000013541] Chr8:132967797 [GRCh38]
Chr8:133980042 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV000013542] Chr8:133022121 [GRCh38]
Chr8:134034366 [GRCh37]
Chr8:8q24.22
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
NM_003235.4(TG):c.6177C>T (p.Pro2059=) single nucleotide variant Malignant melanoma [RCV000068160] Chr8:132972719 [GRCh38]
Chr8:133984964 [GRCh37]
Chr8:134054146 [NCBI36]
Chr8:8q24.22
not provided
NM_001045556.2(SLA):c.59A>T (p.Glu20Val) single nucleotide variant Malignant melanoma [RCV000068161] Chr8:133060102 [GRCh38]
Chr8:134072347 [GRCh37]
Chr8:134141529 [NCBI36]
Chr8:8q24.22
not provided
NM_003235.4(TG):c.5118C>T (p.Asn1706=) single nucleotide variant Malignant melanoma [RCV000061759] Chr8:132941427 [GRCh38]
Chr8:133953672 [GRCh37]
Chr8:134022854 [NCBI36]
Chr8:8q24.22
not provided
NM_003235.5(TG):c.1076-1G>C single nucleotide variant Autoimmune thyroid disease 3 [RCV000662333] Chr8:132886447 [GRCh38]
Chr8:133898692 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_003235.5(TG):c.2639C>T (p.Pro880Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV001333107] Chr8:132888446 [GRCh38]
Chr8:133900691 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.416G>A (p.Trp139Ter) single nucleotide variant Iodotyrosyl coupling defect [RCV001333109] Chr8:132871489 [GRCh38]
Chr8:133883734 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) single nucleotide variant Iodotyrosyl coupling defect [RCV000190631] Chr8:132941493 [GRCh38]
Chr8:133953738 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.3886T>A (p.Phe1296Ile) single nucleotide variant Malignant tumor of prostate [RCV000149144] Chr8:132908224 [GRCh38]
Chr8:133920469 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.22(chr8:132935590-133815152)x3 copy number gain See cases [RCV000143529] Chr8:132935590..133815152 [GRCh38]
Chr8:133947835..134827395 [GRCh37]
Chr8:134017017..134896577 [NCBI36]
Chr8:8q24.22
uncertain significance
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_003235.5(TG):c.6379C>T (p.Arg2127Ter) single nucleotide variant Iodotyrosyl coupling defect [RCV000778853]|not provided [RCV000377668] Chr8:133012017 [GRCh38]
Chr8:134024262 [GRCh37]
Chr8:8q24.22
pathogenic|uncertain significance
NM_003235.5(TG):c.638+5G>A single nucleotide variant Iodotyrosyl coupling defect [RCV000207481] Chr8:132873226 [GRCh38]
Chr8:133885471 [GRCh37]
Chr8:8q24.22
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003235.5(TG):c.3139+9G>A single nucleotide variant Iodotyrosyl coupling defect [RCV001161576]|not specified [RCV000246253] Chr8:132897795 [GRCh38]
Chr8:133910040 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.2334T>C (p.Pro778=) single nucleotide variant Iodotyrosyl coupling defect [RCV000331886]|not specified [RCV000246346] Chr8:132888141 [GRCh38]
Chr8:133900386 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.1543C>G (p.Gln515Glu) single nucleotide variant Iodotyrosyl coupling defect [RCV000336766]|not specified [RCV000248965] Chr8:132886915 [GRCh38]
Chr8:133899160 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.7501T>C (p.Trp2501Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000354501]|not specified [RCV000244259] Chr8:133096302 [GRCh38]
Chr8:134108546 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.3935A>G (p.Asp1312Gly) single nucleotide variant Iodotyrosyl coupling defect [RCV000280505]|not specified [RCV000241944] Chr8:132908273 [GRCh38]
Chr8:133920518 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.1260G>A (p.Gly420=) single nucleotide variant not specified [RCV000244348] Chr8:132886632 [GRCh38]
Chr8:133898877 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.5921T>C (p.Met1974Thr) single nucleotide variant Iodotyrosyl coupling defect [RCV000261810]|not specified [RCV000246840] Chr8:132969515 [GRCh38]
Chr8:133981760 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.7589G>A (p.Arg2530Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV000329782]|not specified [RCV000249422] Chr8:133113438 [GRCh38]
Chr8:134125682 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.5512G>A (p.Asp1838Asn) single nucleotide variant Iodotyrosyl coupling defect [RCV000305066]|not specified [RCV000242253] Chr8:132963038 [GRCh38]
Chr8:133975283 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.3001+10G>A single nucleotide variant not specified [RCV000249664] Chr8:132893939 [GRCh38]
Chr8:133906184 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7408C>T (p.Leu2470=) single nucleotide variant Iodotyrosyl coupling defect [RCV000299677]|not specified [RCV000252113] Chr8:133096209 [GRCh38]
Chr8:134108453 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.85C>T (p.Gln29Ter) single nucleotide variant not provided [RCV000521328] Chr8:132868132 [GRCh38]
Chr8:133880377 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_003235.5(TG):c.4506T>C (p.Ala1502=) single nucleotide variant Iodotyrosyl coupling defect [RCV000267031]|not specified [RCV000244917] Chr8:132919503 [GRCh38]
Chr8:133931748 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.6200-7T>A single nucleotide variant Iodotyrosyl coupling defect [RCV001158692]|not provided [RCV000962343]|not specified [RCV000242582] Chr8:132983343 [GRCh38]
Chr8:133995588 [GRCh37]
Chr8:8q24.22
benign|likely benign|uncertain significance
NM_003235.5(TG):c.6395C>T (p.Ser2132Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV001158696]|not specified [RCV000247563] Chr8:133012033 [GRCh38]
Chr8:134024278 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.3848-20T>C single nucleotide variant not specified [RCV000249976] Chr8:132908166 [GRCh38]
Chr8:133920411 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.7920C>T (p.Tyr2640=) single nucleotide variant Iodotyrosyl coupling defect [RCV000342038]|not specified [RCV000252575] Chr8:133131869 [GRCh38]
Chr8:134144113 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.478+15G>A single nucleotide variant Iodotyrosyl coupling defect [RCV001164846]|not specified [RCV000250285] Chr8:132871566 [GRCh38]
Chr8:133883811 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.3804C>T (p.Ser1268=) single nucleotide variant Iodotyrosyl coupling defect [RCV000284243]|not provided [RCV000968132] Chr8:132906857 [GRCh38]
Chr8:133919102 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.5862A>G (p.Lys1954=) single nucleotide variant Iodotyrosyl coupling defect [RCV000301681] Chr8:132967969 [GRCh38]
Chr8:133980214 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.7573-5T>C single nucleotide variant Iodotyrosyl coupling defect [RCV000369090] Chr8:133113417 [GRCh38]
Chr8:134125661 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.4023G>T (p.Leu1341=) single nucleotide variant Iodotyrosyl coupling defect [RCV000369330] Chr8:132911397 [GRCh38]
Chr8:133923642 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2761+11G>T single nucleotide variant Iodotyrosyl coupling defect [RCV000285186] Chr8:132888579 [GRCh38]
Chr8:133900824 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7162G>A (p.Gly2388Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000303259] Chr8:133029946 [GRCh38]
Chr8:134042191 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.4527C>T (p.His1509=) single nucleotide variant Iodotyrosyl coupling defect [RCV000322141]|not specified [RCV000422664] Chr8:132919524 [GRCh38]
Chr8:133931769 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.2980A>G (p.Ile994Val) single nucleotide variant Iodotyrosyl coupling defect [RCV000346158]|not provided [RCV000897362] Chr8:132893908 [GRCh38]
Chr8:133906153 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.198C>T (p.Asp66=) single nucleotide variant Iodotyrosyl coupling defect [RCV000268975] Chr8:132869750 [GRCh38]
Chr8:133881995 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3749G>T (p.Arg1250Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV000324285]|not provided [RCV000888295] Chr8:132906802 [GRCh38]
Chr8:133919047 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.6646A>G (p.Ile2216Val) single nucleotide variant Iodotyrosyl coupling defect [RCV000347685]|not provided [RCV000892465] Chr8:133017861 [GRCh38]
Chr8:134030106 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.1269C>T (p.Arg423=) single nucleotide variant Iodotyrosyl coupling defect [RCV000371685]|not provided [RCV000963649] Chr8:132886641 [GRCh38]
Chr8:133898886 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.5984A>G (p.Glu1995Gly) single nucleotide variant Iodotyrosyl coupling defect [RCV000371741] Chr8:132971802 [GRCh38]
Chr8:133984047 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5234-10T>C single nucleotide variant Iodotyrosyl coupling defect [RCV000398474] Chr8:132948766 [GRCh38]
Chr8:133961011 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.2150G>A (p.Arg717Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV000270499] Chr8:132887522 [GRCh38]
Chr8:133899767 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7847A>G (p.Asn2616Ser) single nucleotide variant Iodotyrosyl coupling defect [RCV000287087] Chr8:133116701 [GRCh38]
Chr8:134128945 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.4443C>T (p.Tyr1481=) single nucleotide variant Iodotyrosyl coupling defect [RCV000325813] Chr8:132919440 [GRCh38]
Chr8:133931685 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5188C>T (p.Arg1730Cys) single nucleotide variant Iodotyrosyl coupling defect [RCV000349166] Chr8:132941497 [GRCh38]
Chr8:133953742 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2686C>T (p.Arg896Trp) single nucleotide variant Iodotyrosyl coupling defect [RCV000373462] Chr8:132888493 [GRCh38]
Chr8:133900738 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3933G>A (p.Ala1311=) single nucleotide variant Iodotyrosyl coupling defect [RCV000399622] Chr8:132908271 [GRCh38]
Chr8:133920516 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7112G>A (p.Arg2371Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV000400057] Chr8:133029896 [GRCh38]
Chr8:134042141 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7648G>A (p.Glu2550Lys) single nucleotide variant Iodotyrosyl coupling defect [RCV000271223] Chr8:133113497 [GRCh38]
Chr8:134125741 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6945G>A (p.Pro2315=) single nucleotide variant Iodotyrosyl coupling defect [RCV000287933] Chr8:133022059 [GRCh38]
Chr8:134034304 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3647C>T (p.Pro1216Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV000288011]|not provided [RCV000949947] Chr8:132906700 [GRCh38]
Chr8:133918945 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.1890A>G (p.Gln630=) single nucleotide variant Iodotyrosyl coupling defect [RCV000306074]|not provided [RCV000967104] Chr8:132887262 [GRCh38]
Chr8:133899507 [GRCh37]
Chr8:8q24.22
benign|likely benign|uncertain significance
NM_003235.5(TG):c.7737T>C (p.Ala2579=) single nucleotide variant Iodotyrosyl coupling defect [RCV000326325]|not provided [RCV000900448] Chr8:133113586 [GRCh38]
Chr8:134125830 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.379G>A (p.Ala127Thr) single nucleotide variant Iodotyrosyl coupling defect [RCV000326360] Chr8:132871452 [GRCh38]
Chr8:133883697 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.4862C>A (p.Thr1621Lys) single nucleotide variant Iodotyrosyl coupling defect [RCV000373691] Chr8:132933606 [GRCh38]
Chr8:133945851 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3241C>G (p.Arg1081Gly) single nucleotide variant Iodotyrosyl coupling defect [RCV000272792] Chr8:132898821 [GRCh38]
Chr8:133911066 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3397G>A (p.Glu1133Lys) single nucleotide variant Iodotyrosyl coupling defect [RCV000327788]|not specified [RCV000501737] Chr8:132900303 [GRCh38]
Chr8:133912548 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.4563G>A (p.Leu1521=) single nucleotide variant Iodotyrosyl coupling defect [RCV000376721]|not provided [RCV000906149] Chr8:132923372 [GRCh38]
Chr8:133935617 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.2977G>A (p.Ala993Thr) single nucleotide variant Iodotyrosyl coupling defect [RCV000307648] Chr8:132893905 [GRCh38]
Chr8:133906150 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5119C>T (p.Pro1707Ser) single nucleotide variant Iodotyrosyl coupling defect [RCV000352867] Chr8:132941428 [GRCh38]
Chr8:133953673 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.7921G>C (p.Glu2641Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV000377971] Chr8:133131870 [GRCh38]
Chr8:134144114 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3776C>T (p.Pro1259Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV000378687] Chr8:132906829 [GRCh38]
Chr8:133919074 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.8238G>A (p.Thr2746=) single nucleotide variant Iodotyrosyl coupling defect [RCV000400525] Chr8:133134725 [GRCh38]
Chr8:134146969 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2330C>T (p.Pro777Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV000274431]|not provided [RCV000903127] Chr8:132888137 [GRCh38]
Chr8:133900382 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.7578T>A (p.Phe2526Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV000274579] Chr8:133113427 [GRCh38]
Chr8:134125671 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.5370A>G (p.Ile1790Met) single nucleotide variant Congenital hypothyroidism [RCV001270323]|Iodotyrosyl coupling defect [RCV000309599]|not provided [RCV000883879] Chr8:132948912 [GRCh38]
Chr8:133961157 [GRCh37]
Chr8:8q24.22
benign|likely benign|uncertain significance
NM_003235.5(TG):c.3217+11A>C single nucleotide variant Iodotyrosyl coupling defect [RCV000331404] Chr8:132898257 [GRCh38]
Chr8:133910502 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.3171G>C (p.Gly1057=) single nucleotide variant Thyroid dyshormonogenesis [RCV000353301] Chr8:132898200 [GRCh38]
Chr8:133910445 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2963G>C (p.Arg988Pro) single nucleotide variant Iodotyrosyl coupling defect [RCV000401261] Chr8:132893891 [GRCh38]
Chr8:133906136 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7539C>T (p.Asp2513=) single nucleotide variant Iodotyrosyl coupling defect [RCV000259271]|not provided [RCV000958135] Chr8:133096340 [GRCh38]
Chr8:134108584 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.6576C>T (p.Leu2192=) single nucleotide variant Iodotyrosyl coupling defect [RCV000292863] Chr8:133017791 [GRCh38]
Chr8:134030036 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.4267C>T (p.Arg1423Cys) single nucleotide variant Iodotyrosyl coupling defect [RCV000311184] Chr8:132913154 [GRCh38]
Chr8:133925399 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3057C>T (p.Ser1019=) single nucleotide variant Iodotyrosyl coupling defect [RCV000311140]|not provided [RCV000891879] Chr8:132897704 [GRCh38]
Chr8:133909949 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.6181G>A (p.Gly2061Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000332669]|not provided [RCV000895861] Chr8:132972723 [GRCh38]
Chr8:133984968 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.5907G>A (p.Pro1969=) single nucleotide variant Iodotyrosyl coupling defect [RCV000356616] Chr8:132969501 [GRCh38]
Chr8:133981746 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.3583G>A (p.Gly1195Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000382408]|not provided [RCV000892560] Chr8:132901502 [GRCh38]
Chr8:133913747 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.3098C>T (p.Ala1033Val) single nucleotide variant Iodotyrosyl coupling defect [RCV000276023] Chr8:132897745 [GRCh38]
Chr8:133909990 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3187C>A (p.Leu1063Met) single nucleotide variant Iodotyrosyl coupling defect [RCV000276378]|not provided [RCV000959036] Chr8:132898216 [GRCh38]
Chr8:133910461 [GRCh37]
Chr8:8q24.22
benign|likely benign|uncertain significance
NM_003235.5(TG):c.554C>T (p.Ala185Val) single nucleotide variant Iodotyrosyl coupling defect [RCV000383418] Chr8:132873137 [GRCh38]
Chr8:133885382 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6819G>A (p.Thr2273=) single nucleotide variant Iodotyrosyl coupling defect [RCV000383606] Chr8:133019638 [GRCh38]
Chr8:134031883 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5186A>C (p.Asp1729Ala) single nucleotide variant Iodotyrosyl coupling defect [RCV000294190]|not provided [RCV000956676] Chr8:132941495 [GRCh38]
Chr8:133953740 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.1075+8T>G single nucleotide variant Iodotyrosyl coupling defect [RCV000294528]|not provided [RCV000897361] Chr8:132883007 [GRCh38]
Chr8:133895252 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.3953A>G (p.Gln1318Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000335521] Chr8:132908291 [GRCh38]
Chr8:133920536 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5549-9C>A single nucleotide variant Iodotyrosyl coupling defect [RCV000359856] Chr8:132966551 [GRCh38]
Chr8:133978796 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.7640T>A (p.Leu2547Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV000384284]|not provided [RCV000903954] Chr8:133113489 [GRCh38]
Chr8:134125733 [GRCh37]
Chr8:8q24.22
benign|likely benign|uncertain significance
NM_003235.5(TG):c.1567T>C (p.Ser523Pro) single nucleotide variant Iodotyrosyl coupling defect [RCV000407155]|not provided [RCV000954120]|not specified [RCV000499577] Chr8:132886939 [GRCh38]
Chr8:133899184 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.1834C>A (p.Pro612Thr) single nucleotide variant Iodotyrosyl coupling defect [RCV000407176]|not provided [RCV000898524] Chr8:132887206 [GRCh38]
Chr8:133899451 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.7264G>A (p.Ala2422Thr) single nucleotide variant Iodotyrosyl coupling defect [RCV000407987] Chr8:133095068 [GRCh38]
Chr8:134107312 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.3024C>T (p.Arg1008=) single nucleotide variant Iodotyrosyl coupling defect [RCV000407803]|not provided [RCV000881383] Chr8:132897671 [GRCh38]
Chr8:133909916 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.4982G>A (p.Arg1661His) single nucleotide variant Iodotyrosyl coupling defect [RCV000279090] Chr8:132935805 [GRCh38]
Chr8:133948050 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3982C>T (p.Arg1328Cys) single nucleotide variant Iodotyrosyl coupling defect [RCV000314482] Chr8:132908320 [GRCh38]
Chr8:133920565 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6324G>A (p.Arg2108=) single nucleotide variant Iodotyrosyl coupling defect [RCV000387157]|not provided [RCV000903604] Chr8:133011962 [GRCh38]
Chr8:134024207 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.1532A>G (p.Asn511Ser) single nucleotide variant Iodotyrosyl coupling defect [RCV000279503] Chr8:132886904 [GRCh38]
Chr8:133899149 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3129C>T (p.His1043=) single nucleotide variant Iodotyrosyl coupling defect [RCV000314781]|not provided [RCV000971767] Chr8:132897776 [GRCh38]
Chr8:133910021 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.8202C>T (p.Gly2734=) single nucleotide variant Iodotyrosyl coupling defect [RCV000338469]|not provided [RCV000888332] Chr8:133134689 [GRCh38]
Chr8:134146933 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.2737T>C (p.Ser913Pro) single nucleotide variant Iodotyrosyl coupling defect [RCV000338757] Chr8:132888544 [GRCh38]
Chr8:133900789 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.66C>T (p.Phe22=) single nucleotide variant Iodotyrosyl coupling defect [RCV000361415] Chr8:132867066 [GRCh38]
Chr8:133879311 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV000361901]|not provided [RCV000413485] Chr8:132919478 [GRCh38]
Chr8:133931723 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.1900G>A (p.Gly634Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000363126]|not provided [RCV000903080] Chr8:132887272 [GRCh38]
Chr8:133899517 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter) single nucleotide variant Iodotyrosyl coupling defect [RCV000363367] Chr8:132948928 [GRCh38]
Chr8:133961173 [GRCh37]
Chr8:8q24.22
likely pathogenic|uncertain significance
NM_003235.5(TG):c.2443G>A (p.Gly815Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV000388671] Chr8:132888250 [GRCh38]
Chr8:133900495 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.2560C>T (p.Arg854Trp) single nucleotide variant Iodotyrosyl coupling defect [RCV000316549]|not provided [RCV000434871] Chr8:132888367 [GRCh38]
Chr8:133900612 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5976-15C>T single nucleotide variant Iodotyrosyl coupling defect [RCV000317083] Chr8:132971779 [GRCh38]
Chr8:133984024 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7202C>T (p.Ala2401Val) single nucleotide variant Iodotyrosyl coupling defect [RCV000339250] Chr8:133029986 [GRCh38]
Chr8:134042231 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5122A>G (p.Ile1708Val) single nucleotide variant Iodotyrosyl coupling defect [RCV000389981]|not provided [RCV000956675] Chr8:132941431 [GRCh38]
Chr8:133953676 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.5856G>A (p.Arg1952=) single nucleotide variant Iodotyrosyl coupling defect [RCV000265318]|not provided [RCV000892613] Chr8:132967963 [GRCh38]
Chr8:133980208 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.2709G>C (p.Glu903Asp) single nucleotide variant Iodotyrosyl coupling defect [RCV000281352] Chr8:132888516 [GRCh38]
Chr8:133900761 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.4713T>C (p.Phe1571=) single nucleotide variant Iodotyrosyl coupling defect [RCV000282137] Chr8:132929089 [GRCh38]
Chr8:133941334 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.4743C>T (p.Phe1581=) single nucleotide variant Iodotyrosyl coupling defect [RCV000318556]|not provided [RCV000918723] Chr8:132929119 [GRCh38]
Chr8:133941364 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.1802C>T (p.Thr601Met) single nucleotide variant Iodotyrosyl coupling defect [RCV000340940] Chr8:132887174 [GRCh38]
Chr8:133899419 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.4365C>T (p.Asp1455=) single nucleotide variant Iodotyrosyl coupling defect [RCV000365806]|not provided [RCV000880864] Chr8:132913252 [GRCh38]
Chr8:133925497 [GRCh37]
Chr8:8q24.22
benign|likely benign|uncertain significance
NM_003235.5(TG):c.4193G>A (p.Arg1398His) single nucleotide variant Iodotyrosyl coupling defect [RCV000391527]|not provided [RCV000956674] Chr8:132913080 [GRCh38]
Chr8:133925325 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.5485C>T (p.Arg1829Trp) single nucleotide variant Iodotyrosyl coupling defect [RCV000391660] Chr8:132963011 [GRCh38]
Chr8:133975256 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.8189-14C>T single nucleotide variant Iodotyrosyl coupling defect [RCV000283385] Chr8:133134662 [GRCh38]
Chr8:134146906 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2762-4C>T single nucleotide variant Iodotyrosyl coupling defect [RCV000342442] Chr8:132893686 [GRCh38]
Chr8:133905931 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6952G>A (p.Asp2318Asn) single nucleotide variant Iodotyrosyl coupling defect [RCV000342853] Chr8:133022066 [GRCh38]
Chr8:134034311 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2295C>T (p.Thr765=) single nucleotide variant Iodotyrosyl coupling defect [RCV000366154] Chr8:132888102 [GRCh38]
Chr8:133900347 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3217+14G>T single nucleotide variant Iodotyrosyl coupling defect [RCV000367376] Chr8:132898260 [GRCh38]
Chr8:133910505 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.4379-13T>G single nucleotide variant Iodotyrosyl coupling defect [RCV000270723] Chr8:132919363 [GRCh38]
Chr8:133931608 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2455C>T (p.Leu819Phe) single nucleotide variant Iodotyrosyl coupling defect [RCV000277985] Chr8:132888262 [GRCh38]
Chr8:133900507 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3035C>T (p.Pro1012Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV000490475]|not provided [RCV000964302] Chr8:132897682 [GRCh38]
Chr8:133909927 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.7859G>A (p.Gly2620Asp) single nucleotide variant Congenital hypothyroidism [RCV001270325] Chr8:133116713 [GRCh38]
Chr8:134128957 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.2134dup (p.Ala712fs) duplication Congenital hypothyroidism [RCV001270321] Chr8:132887504..132887505 [GRCh38]
Chr8:133899749..133899750 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_003235.5(TG):c.1681A>G (p.Asn561Asp) single nucleotide variant Iodotyrosyl coupling defect [RCV000302472] Chr8:132887053 [GRCh38]
Chr8:133899298 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7573-5del deletion Thyroid dyshormonogenesis [RCV000314544] Chr8:133113407 [GRCh38]
Chr8:134125651 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.698G>A (p.Gly233Glu) single nucleotide variant Iodotyrosyl coupling defect [RCV000329759] Chr8:132881922 [GRCh38]
Chr8:133894167 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7824C>A (p.Val2608=) single nucleotide variant Iodotyrosyl coupling defect [RCV000381578] Chr8:133116678 [GRCh38]
Chr8:134128922 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.1233G>A (p.Thr411=) single nucleotide variant Iodotyrosyl coupling defect [RCV000351733] Chr8:132886605 [GRCh38]
Chr8:133898850 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3912G>A (p.Lys1304=) single nucleotide variant Iodotyrosyl coupling defect [RCV000339314] Chr8:132908250 [GRCh38]
Chr8:133920495 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3964T>C (p.Leu1322=) single nucleotide variant Iodotyrosyl coupling defect [RCV000391507] Chr8:132908302 [GRCh38]
Chr8:133920547 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3529del (p.Ser1177fs) deletion not provided [RCV000522997] Chr8:132901445 [GRCh38]
Chr8:133913690 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_003235.5(TG):c.2761+2T>G single nucleotide variant Iodotyrosyl coupling defect [RCV000377360] Chr8:132888570 [GRCh38]
Chr8:133900815 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.479G>C (p.Cys160Ser) single nucleotide variant not provided [RCV000523933] Chr8:132873062 [GRCh38]
Chr8:133885307 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_003235.5(TG):c.6304G>C (p.Val2102Leu) single nucleotide variant not provided [RCV000414376] Chr8:133011942 [GRCh38]
Chr8:134024187 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3985G>A (p.Gly1329Ser) single nucleotide variant not provided [RCV000728869] Chr8:132908323 [GRCh38]
Chr8:133920568 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2443G>T (p.Gly815Ter) single nucleotide variant not provided [RCV000412820] Chr8:132888250 [GRCh38]
Chr8:133900495 [GRCh37]
Chr8:8q24.22
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003235.5(TG):c.3367G>A (p.Gly1123Ser) single nucleotide variant not provided [RCV000425024] Chr8:132900273 [GRCh38]
Chr8:133912518 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7755-9T>G single nucleotide variant Iodotyrosyl coupling defect [RCV001163831]|not provided [RCV000423446] Chr8:133116600 [GRCh38]
Chr8:134128844 [GRCh37]
Chr8:8q24.22
conflicting interpretations of pathogenicity|uncertain significance
NM_003235.5(TG):c.217G>A (p.Val73Met) single nucleotide variant not provided [RCV000426382] Chr8:132869769 [GRCh38]
Chr8:133882014 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3835C>T (p.Arg1279Trp) single nucleotide variant not provided [RCV000419822] Chr8:132906888 [GRCh38]
Chr8:133919133 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.22(chr8:134064220-134138660)x1 copy number loss See cases [RCV000448841] Chr8:134064220..134138660 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_003235.5(TG):c.3856C>A (p.Leu1286Met) single nucleotide variant not provided [RCV000485209] Chr8:132908194 [GRCh38]
Chr8:133920439 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.266dup (p.Val90fs) duplication Iodotyrosyl coupling defect [RCV000503286] Chr8:132869816..132869817 [GRCh38]
Chr8:133882061..133882062 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.6563-3C>T single nucleotide variant Iodotyrosyl coupling defect [RCV001161911]|not specified [RCV000503840] Chr8:133017775 [GRCh38]
Chr8:134030020 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.229G>A (p.Gly77Ser) single nucleotide variant Iodotyrosyl coupling defect [RCV000760170]|Iodotyrosyl coupling defect [RCV000764740]|not specified [RCV000501874] Chr8:132869781 [GRCh38]
Chr8:133882026 [GRCh37]
Chr8:8q24.22
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003235.5(TG):c.144C>T (p.Tyr48=) single nucleotide variant Iodotyrosyl coupling defect [RCV001161227]|not provided [RCV000948806]|not specified [RCV000499743] Chr8:132868191 [GRCh38]
Chr8:133880436 [GRCh37]
Chr8:8q24.22
benign|likely benign|uncertain significance
NM_003235.5(TG):c.7396C>G (p.Gln2466Glu) single nucleotide variant not specified [RCV000502203] Chr8:133095200 [GRCh38]
Chr8:134107444 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7083G>T (p.Ala2361=) single nucleotide variant Iodotyrosyl coupling defect [RCV001163722]|not provided [RCV000971379]|not specified [RCV000500104] Chr8:133029867 [GRCh38]
Chr8:134042112 [GRCh37]
Chr8:8q24.22
benign|likely benign|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3 copy number gain See cases [RCV000511900] Chr8:131025817..133947836 [GRCh37]
Chr8:8q24.21-24.22
uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_003235.5(TG):c.5509_5518del (p.Lys1837fs) deletion not provided [RCV000627572] Chr8:132963035..132963044 [GRCh38]
Chr8:133975280..133975289 [GRCh37]
Chr8:8q24.22
likely pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:133621137-140433338)x1 copy number loss not provided [RCV000747861] Chr8:133621137..140433338 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
NM_003235.5(TG):c.4671G>A (p.Glu1557=) single nucleotide variant not provided [RCV000979641] Chr8:132923480 [GRCh38]
Chr8:133935725 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.1065G>A (p.Pro355=) single nucleotide variant not provided [RCV000980000] Chr8:132882989 [GRCh38]
Chr8:133895234 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.199G>A (p.Gly67Ser) single nucleotide variant Iodotyrosyl coupling defect [RCV001162774]|not provided [RCV000962341] Chr8:132869751 [GRCh38]
Chr8:133881996 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.1434G>A (p.Val478=) single nucleotide variant Iodotyrosyl coupling defect [RCV001161342]|not provided [RCV000962342] Chr8:132886806 [GRCh38]
Chr8:133899051 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.1099G>T (p.Glu367Ter) single nucleotide variant not provided [RCV000760812] Chr8:132886471 [GRCh38]
Chr8:133898716 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_003235.5(TG):c.1862C>T (p.Thr621Met) single nucleotide variant Iodotyrosyl coupling defect [RCV001164971] Chr8:132887234 [GRCh38]
Chr8:133899479 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.1612_1613insGTTAAGGTTAAG (p.Ala538delinsGlyTer) insertion not provided [RCV000999073] Chr8:132886983..132886984 [GRCh38]
Chr8:133899228..133899229 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_003235.5(TG):c.6183A>G (p.Gly2061=) single nucleotide variant not provided [RCV000922557] Chr8:132972725 [GRCh38]
Chr8:133984970 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7665C>T (p.Arg2555=) single nucleotide variant not provided [RCV000905538] Chr8:133113514 [GRCh38]
Chr8:134125758 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.7140G>A (p.Val2380=) single nucleotide variant not provided [RCV000906001] Chr8:133029924 [GRCh38]
Chr8:134042169 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.6055+9G>A single nucleotide variant not provided [RCV000901633] Chr8:132971882 [GRCh38]
Chr8:133984127 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.5402-8C>T single nucleotide variant not provided [RCV000900365] Chr8:132961000 [GRCh38]
Chr8:133973245 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.176+9T>C single nucleotide variant not provided [RCV000881286] Chr8:132868232 [GRCh38]
Chr8:133880477 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.366T>C (p.Asp122=) single nucleotide variant not provided [RCV000929556] Chr8:132871439 [GRCh38]
Chr8:133883684 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.6885C>T (p.Asn2295=) single nucleotide variant not provided [RCV000904286] Chr8:133021999 [GRCh38]
Chr8:134034244 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.4257G>A (p.Ala1419=) single nucleotide variant Iodotyrosyl coupling defect [RCV001161695]|not provided [RCV000906148] Chr8:132913144 [GRCh38]
Chr8:133925389 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.4859C>T (p.Thr1620Met) single nucleotide variant Iodotyrosyl coupling defect [RCV001165309]|not provided [RCV000906150] Chr8:132933603 [GRCh38]
Chr8:133945848 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.5592C>T (p.Val1864=) single nucleotide variant not provided [RCV000959007] Chr8:132966603 [GRCh38]
Chr8:133978848 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.2963G>A (p.Arg988His) single nucleotide variant Iodotyrosyl coupling defect [RCV001165078]|not provided [RCV000948807] Chr8:132893891 [GRCh38]
Chr8:133906136 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.6886G>A (p.Ala2296Thr) single nucleotide variant not provided [RCV000972456] Chr8:133022000 [GRCh38]
Chr8:134034245 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.5571C>T (p.Ser1857=) single nucleotide variant not provided [RCV000921279] Chr8:132966582 [GRCh38]
Chr8:133978827 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.4797C>T (p.Pro1599=) single nucleotide variant not provided [RCV000923422] Chr8:132929173 [GRCh38]
Chr8:133941418 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.1557C>G (p.Ala519=) single nucleotide variant not provided [RCV000898980] Chr8:132886929 [GRCh38]
Chr8:133899174 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.555G>A (p.Ala185=) single nucleotide variant Iodotyrosyl coupling defect [RCV001164849]|not provided [RCV000883925] Chr8:132873138 [GRCh38]
Chr8:133885383 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.60T>C (p.Asn20=) single nucleotide variant not provided [RCV000901268] Chr8:132867060 [GRCh38]
Chr8:133879305 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.981G>A (p.Ala327=) single nucleotide variant Iodotyrosyl coupling defect [RCV001159942]|not provided [RCV000923414] Chr8:132882905 [GRCh38]
Chr8:133895150 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.6498T>C (p.Ser2166=) single nucleotide variant Iodotyrosyl coupling defect [RCV001158697]|not provided [RCV000880266] Chr8:133013700 [GRCh38]
Chr8:134025945 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV001165188]|not provided [RCV000950738] Chr8:132906718 [GRCh38]
Chr8:133918963 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.8043T>C (p.Phe2681=) single nucleotide variant not provided [RCV000926622] Chr8:133133515 [GRCh38]
Chr8:134145759 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.5071C>T (p.Arg1691Cys) single nucleotide variant Iodotyrosyl coupling defect [RCV001158580]|not provided [RCV000899498] Chr8:132941380 [GRCh38]
Chr8:133953625 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.913C>A (p.Arg305=) single nucleotide variant not provided [RCV000879990] Chr8:132882837 [GRCh38]
Chr8:133895082 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.1573G>A (p.Gly525Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV001162888]|not provided [RCV000902126] Chr8:132886945 [GRCh38]
Chr8:133899190 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp) single nucleotide variant Iodotyrosyl coupling defect [RCV001163834]|not provided [RCV000949747] Chr8:133133498 [GRCh38]
Chr8:134145742 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.3894C>A (p.Leu1298=) single nucleotide variant not provided [RCV000921048] Chr8:132908232 [GRCh38]
Chr8:133920477 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.5864-8C>T single nucleotide variant Iodotyrosyl coupling defect [RCV001163319]|not provided [RCV000906851] Chr8:132969450 [GRCh38]
Chr8:133981695 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.4668A>G (p.Thr1556=) single nucleotide variant not provided [RCV000922594] Chr8:132923477 [GRCh38]
Chr8:133935722 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.4484T>C (p.Val1495Ala) single nucleotide variant Iodotyrosyl coupling defect [RCV001163209]|not provided [RCV000967105] Chr8:132919481 [GRCh38]
Chr8:133931726 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.4537G>T (p.Asp1513Tyr) single nucleotide variant not provided [RCV000881430] Chr8:132923346 [GRCh38]
Chr8:133935591 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.5219C>A (p.Thr1740Lys) single nucleotide variant Iodotyrosyl coupling defect [RCV001158581]|not provided [RCV000881431] Chr8:132941528 [GRCh38]
Chr8:133953773 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.1333C>T (p.Arg445Ter) single nucleotide variant Iodotyrosyl coupling defect [RCV000779551] Chr8:132886705 [GRCh38]
Chr8:133898950 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.1963C>T (p.Gln655Ter) single nucleotide variant Iodotyrosyl coupling defect [RCV000778851] Chr8:132887335 [GRCh38]
Chr8:133899580 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5895C>A (p.Tyr1965Ter) single nucleotide variant Iodotyrosyl coupling defect [RCV000778852] Chr8:132969489 [GRCh38]
Chr8:133981734 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7753C>T (p.Arg2585Trp) single nucleotide variant Iodotyrosyl coupling defect [RCV000778854]|not provided [RCV000897827] Chr8:133113602 [GRCh38]
Chr8:134125846 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.8205del (p.Gln2736fs) deletion Iodotyrosyl coupling defect [RCV000778855] Chr8:133134690 [GRCh38]
Chr8:134146934 [GRCh37]
Chr8:8q24.22
conflicting interpretations of pathogenicity|uncertain significance
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) single nucleotide variant Iodotyrosyl coupling defect [RCV000778925] Chr8:132888166 [GRCh38]
Chr8:133900411 [GRCh37]
Chr8:8q24.22
conflicting interpretations of pathogenicity|uncertain significance
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) single nucleotide variant Iodotyrosyl coupling defect [RCV000778926]|not provided [RCV000999075] Chr8:132913265 [GRCh38]
Chr8:133925510 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6055+7A>G single nucleotide variant Iodotyrosyl coupling defect [RCV001165418]|not provided [RCV000965086] Chr8:132971880 [GRCh38]
Chr8:133984125 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.4110A>T (p.Ser1370=) single nucleotide variant not provided [RCV000932868] Chr8:132911484 [GRCh38]
Chr8:133923729 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.2184G>A (p.Thr728=) single nucleotide variant not provided [RCV000940171] Chr8:132887991 [GRCh38]
Chr8:133900236 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.3666G>A (p.Ser1222=) single nucleotide variant not provided [RCV000898202] Chr8:132906719 [GRCh38]
Chr8:133918964 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.537A>G (p.Ser179=) single nucleotide variant Iodotyrosyl coupling defect [RCV001164848]|not provided [RCV000967103] Chr8:132873120 [GRCh38]
Chr8:133885365 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.6056-9C>T single nucleotide variant not provided [RCV000905887] Chr8:132972589 [GRCh38]
Chr8:133984834 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.5373G>A (p.Leu1791=) single nucleotide variant not provided [RCV000933234] Chr8:132948915 [GRCh38]
Chr8:133961160 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.6300A>G (p.Ser2100=) single nucleotide variant not provided [RCV000895656] Chr8:133011938 [GRCh38]
Chr8:134024183 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.3494A>G (p.Tyr1165Cys) single nucleotide variant Iodotyrosyl coupling defect [RCV001163107]|not provided [RCV000968131] Chr8:132901413 [GRCh38]
Chr8:133913658 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.2581A>G (p.Ile861Val) single nucleotide variant not provided [RCV000977904] Chr8:132888388 [GRCh38]
Chr8:133900633 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.372G>A (p.Gly124=) single nucleotide variant not provided [RCV000940591] Chr8:132871445 [GRCh38]
Chr8:133883690 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.6199+8C>A single nucleotide variant not provided [RCV000959037] Chr8:132972749 [GRCh38]
Chr8:133984994 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.4773C>T (p.Ser1591=) single nucleotide variant not provided [RCV000897408] Chr8:132929149 [GRCh38]
Chr8:133941394 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.1021G>C (p.Ala341Pro) single nucleotide variant not provided [RCV000895860] Chr8:132882945 [GRCh38]
Chr8:133895190 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.6565A>G (p.Ile2189Val) single nucleotide variant not provided [RCV000967756] Chr8:133017780 [GRCh38]
Chr8:134030025 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.2064T>C (p.Thr688=) single nucleotide variant not provided [RCV000919907] Chr8:132887436 [GRCh38]
Chr8:133899681 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.3081C>T (p.Tyr1027=) single nucleotide variant not provided [RCV000923415] Chr8:132897728 [GRCh38]
Chr8:133909973 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.3930C>T (p.Tyr1310=) single nucleotide variant not provided [RCV000927097] Chr8:132908268 [GRCh38]
Chr8:133920513 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7862+7C>A single nucleotide variant not provided [RCV000938745] Chr8:133116723 [GRCh38]
Chr8:134128967 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7335A>T (p.Ser2445=) single nucleotide variant Iodotyrosyl coupling defect [RCV001158803]|not provided [RCV000941136] Chr8:133095139 [GRCh38]
Chr8:134107383 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.6180C>T (p.Phe2060=) single nucleotide variant not provided [RCV000901946] Chr8:132972722 [GRCh38]
Chr8:133984967 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.105G>A (p.Glu35=) single nucleotide variant Iodotyrosyl coupling defect [RCV001161225]|not provided [RCV000954180] Chr8:132868152 [GRCh38]
Chr8:133880397 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.7847A>T (p.Asn2616Ile) single nucleotide variant Iodotyrosyl coupling defect [RCV001163833]|not provided [RCV000968850] Chr8:133116701 [GRCh38]
Chr8:134128945 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.1296G>A (p.Gln432=) single nucleotide variant Iodotyrosyl coupling defect [RCV001161337]|not provided [RCV000884444] Chr8:132886668 [GRCh38]
Chr8:133898913 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.2793T>C (p.Arg931=) single nucleotide variant Iodotyrosyl coupling defect [RCV001165076]|not provided [RCV000884445] Chr8:132893721 [GRCh38]
Chr8:133905966 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.3313G>A (p.Val1105Ile) single nucleotide variant Iodotyrosyl coupling defect [RCV001163105]|not provided [RCV000884446] Chr8:132898893 [GRCh38]
Chr8:133911138 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.5864-7T>C single nucleotide variant Iodotyrosyl coupling defect [RCV001163320]|not provided [RCV000938684] Chr8:132969451 [GRCh38]
Chr8:133981696 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.7782C>T (p.Ile2594=) single nucleotide variant Iodotyrosyl coupling defect [RCV001163832]|not provided [RCV000897793] Chr8:133116636 [GRCh38]
Chr8:134128880 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.325A>G (p.Ile109Val) single nucleotide variant Iodotyrosyl coupling defect [RCV001162775]|not provided [RCV000954445] Chr8:132871398 [GRCh38]
Chr8:133883643 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.7449C>T (p.Ile2483=) single nucleotide variant Iodotyrosyl coupling defect [RCV001160154]|not provided [RCV000897141] Chr8:133096250 [GRCh38]
Chr8:134108494 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.4851C>T (p.Thr1617=) single nucleotide variant not provided [RCV000900934] Chr8:132933595 [GRCh38]
Chr8:133945840 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.5855G>A (p.Arg1952Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV001163317]|not provided [RCV000906539] Chr8:132967962 [GRCh38]
Chr8:133980207 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.7521C>T (p.Leu2507=) single nucleotide variant not provided [RCV000885988] Chr8:133096322 [GRCh38]
Chr8:134108566 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.2561G>A (p.Arg854Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV001162993]|not provided [RCV000963650] Chr8:132888368 [GRCh38]
Chr8:133900613 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_003235.5(TG):c.7836T>C (p.His2612=) single nucleotide variant not provided [RCV000914100] Chr8:133116690 [GRCh38]
Chr8:134128934 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.4990G>A (p.Val1664Met) single nucleotide variant Iodotyrosyl coupling defect [RCV001165310]|not provided [RCV000999076] Chr8:132935813 [GRCh38]
Chr8:133948058 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_003235.5(TG):c.5804del (p.Asn1935fs) deletion Hypothyroidism [RCV000850357] Chr8:132967910 [GRCh38]
Chr8:133980155 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_003235.5(TG):c.946G>A (p.Val316Ile) single nucleotide variant Iodotyrosyl coupling defect [RCV000988117] Chr8:132882870 [GRCh38]
Chr8:133895115 [GRCh37]
Chr8:8q24.22
uncertain significance
NC_000008.10:g.(?_133141489)_(134296574_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV000804620] Chr8:133141489..134296574 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.488G>A (p.Ser163Asn) single nucleotide variant Iodotyrosyl coupling defect [RCV001164847] Chr8:132873071 [GRCh38]
Chr8:133885316 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.1958G>A (p.Gly653Asp) single nucleotide variant Iodotyrosyl coupling defect [RCV001164972]|not provided [RCV001310641] Chr8:132887330 [GRCh38]
Chr8:133899575 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.1389C>T (p.Asn463=) single nucleotide variant Iodotyrosyl coupling defect [RCV001161341]|not provided [RCV000917363] Chr8:132886761 [GRCh38]
Chr8:133899006 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.5686+1G>T single nucleotide variant Congenital hypothyroidism [RCV000845082] Chr8:132966698 [GRCh38]
Chr8:133978943 [GRCh37]
Chr8:8q24.22
not provided
NM_003235.5(TG):c.3618C>A (p.Gly1206=) single nucleotide variant not provided [RCV000938575] Chr8:132901537 [GRCh38]
Chr8:133913782 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.455G>A (p.Arg152His) single nucleotide variant Iodotyrosyl coupling defect [RCV001164845] Chr8:132871528 [GRCh38]
Chr8:133883773 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2018T>C (p.Met673Thr) single nucleotide variant Iodotyrosyl coupling defect [RCV001164973] Chr8:132887390 [GRCh38]
Chr8:133899635 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5965A>G (p.Ile1989Val) single nucleotide variant Iodotyrosyl coupling defect [RCV001165416] Chr8:132969559 [GRCh38]
Chr8:133981804 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6272A>G (p.Asp2091Gly) single nucleotide variant Iodotyrosyl coupling defect [RCV001158694]|not provided [RCV000959038] Chr8:133011910 [GRCh38]
Chr8:134024155 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.4369C>G (p.Leu1457Val) single nucleotide variant Iodotyrosyl coupling defect [RCV000988118] Chr8:132913256 [GRCh38]
Chr8:133925501 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7132C>T (p.Arg2378Trp) single nucleotide variant Iodotyrosyl coupling defect [RCV001163723] Chr8:133029916 [GRCh38]
Chr8:134042161 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5304C>G (p.Pro1768=) single nucleotide variant Iodotyrosyl coupling defect [RCV001161801] Chr8:132948846 [GRCh38]
Chr8:133961091 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6681G>T (p.Gln2227His) single nucleotide variant Iodotyrosyl coupling defect [RCV001161914] Chr8:133017896 [GRCh38]
Chr8:134030141 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.353C>T (p.Pro118Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV001162776] Chr8:132871426 [GRCh38]
Chr8:133883671 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2652A>C (p.Ser884=) single nucleotide variant Iodotyrosyl coupling defect [RCV001162994] Chr8:132888459 [GRCh38]
Chr8:133900704 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5863+14G>A single nucleotide variant Iodotyrosyl coupling defect [RCV001163318] Chr8:132967984 [GRCh38]
Chr8:133980229 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6770C>T (p.Ala2257Val) single nucleotide variant Iodotyrosyl coupling defect [RCV001163433] Chr8:133017985 [GRCh38]
Chr8:134030230 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6797A>G (p.Gln2266Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV001163435] Chr8:133019616 [GRCh38]
Chr8:134031861 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.1683C>T (p.Asn561=) single nucleotide variant Iodotyrosyl coupling defect [RCV001162890] Chr8:132887055 [GRCh38]
Chr8:133899300 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7632G>T (p.Gln2544His) single nucleotide variant Iodotyrosyl coupling defect [RCV001163534] Chr8:133113481 [GRCh38]
Chr8:134125725 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7657G>A (p.Asp2553Asn) single nucleotide variant Iodotyrosyl coupling defect [RCV001163536] Chr8:133113506 [GRCh38]
Chr8:134125750 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_003235.5(TG):c.2223G>T (p.Thr741=) single nucleotide variant not provided [RCV000999074] Chr8:132888030 [GRCh38]
Chr8:133900275 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.6056-22G>T single nucleotide variant Iodotyrosyl coupling defect [RCV000988119] Chr8:132972576 [GRCh38]
Chr8:133984821 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.2788C>T (p.Leu930Phe) single nucleotide variant Iodotyrosyl coupling defect [RCV001165075] Chr8:132893716 [GRCh38]
Chr8:133905961 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2819A>C (p.Glu940Ala) single nucleotide variant Iodotyrosyl coupling defect [RCV001165077] Chr8:132893747 [GRCh38]
Chr8:133905992 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) single nucleotide variant Iodotyrosyl coupling defect [RCV001165417] Chr8:132971819 [GRCh38]
Chr8:133984064 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.925A>G (p.Thr309Ala) single nucleotide variant Iodotyrosyl coupling defect [RCV001159941] Chr8:132882849 [GRCh38]
Chr8:133895094 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.1020C>T (p.Asp340=) single nucleotide variant Iodotyrosyl coupling defect [RCV001159944] Chr8:132882944 [GRCh38]
Chr8:133895189 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2079C>G (p.Phe693Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV001160053] Chr8:132887451 [GRCh38]
Chr8:133899696 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2299G>A (p.Gly767Arg) single nucleotide variant Iodotyrosyl coupling defect [RCV001160054] Chr8:132888106 [GRCh38]
Chr8:133900351 [GRCh37]
Chr8:8q24.22
uncertain significance
NC_000008.11:g.132866946G>A single nucleotide variant Iodotyrosyl coupling defect [RCV001161223] Chr8:132866946 [GRCh38]
Chr8:133879191 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2444G>A (p.Gly815Glu) single nucleotide variant Iodotyrosyl coupling defect [RCV001161461] Chr8:132888251 [GRCh38]
Chr8:133900496 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.3040G>C (p.Asp1014His) single nucleotide variant Iodotyrosyl coupling defect [RCV001158366] Chr8:132897687 [GRCh38]
Chr8:133909932 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6518G>A (p.Arg2173Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV001158698] Chr8:133013720 [GRCh38]
Chr8:134025965 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7020C>T (p.Phe2340=) single nucleotide variant Iodotyrosyl coupling defect [RCV001163437]|not provided [RCV000899165] Chr8:133022134 [GRCh38]
Chr8:134034379 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.3180T>C (p.Pro1060=) single nucleotide variant not provided [RCV000922503] Chr8:132898209 [GRCh38]
Chr8:133910454 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7414G>C (p.Val2472Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV001158808]|not provided [RCV000947135] Chr8:133096215 [GRCh38]
Chr8:134108459 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.1821C>T (p.Thr607=) single nucleotide variant Iodotyrosyl coupling defect [RCV001164969]|not provided [RCV000975191] Chr8:132887193 [GRCh38]
Chr8:133899438 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.7569G>A (p.Val2523=) single nucleotide variant not provided [RCV000931593] Chr8:133096370 [GRCh38]
Chr8:134108614 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.138A>C (p.Ala46=) single nucleotide variant not provided [RCV000933539] Chr8:132868185 [GRCh38]
Chr8:133880430 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.4493C>T (p.Thr1498Met) single nucleotide variant Iodotyrosyl coupling defect [RCV001163210]|not provided [RCV000953588] Chr8:132919490 [GRCh38]
Chr8:133931735 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.582C>T (p.Cys194=) single nucleotide variant not provided [RCV000918770] Chr8:132873165 [GRCh38]
Chr8:133885410 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.5299_5301del (p.Asp1767del) deletion Congenital hypothyroidism [RCV001270339]|not provided [RCV000883878] Chr8:132948841..132948843 [GRCh38]
Chr8:133961086..133961088 [GRCh37]
Chr8:8q24.22
likely pathogenic|benign
NM_003235.5(TG):c.2520T>C (p.Pro840=) single nucleotide variant not provided [RCV000959035] Chr8:132888327 [GRCh38]
Chr8:133900572 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.6984C>G (p.Leu2328=) single nucleotide variant Iodotyrosyl coupling defect [RCV001163436]|not provided [RCV000959040] Chr8:133022098 [GRCh38]
Chr8:134034343 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.7413C>T (p.Ala2471=) single nucleotide variant not provided [RCV000909268] Chr8:133096214 [GRCh38]
Chr8:134108458 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.6351T>G (p.Thr2117=) single nucleotide variant Iodotyrosyl coupling defect [RCV001158695]|not provided [RCV000907510] Chr8:133011989 [GRCh38]
Chr8:134024234 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.2859G>A (p.Leu953=) single nucleotide variant not provided [RCV000896646] Chr8:132893787 [GRCh38]
Chr8:133906032 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.6669G>A (p.Lys2223=) single nucleotide variant not provided [RCV000959039] Chr8:133017884 [GRCh38]
Chr8:134030129 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.4638C>T (p.Gly1546=) single nucleotide variant not provided [RCV000930611] Chr8:132923447 [GRCh38]
Chr8:133935692 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.6888G>A (p.Ala2296=) single nucleotide variant not provided [RCV000910193] Chr8:133022002 [GRCh38]
Chr8:134034247 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.5391G>A (p.Glu1797=) single nucleotide variant not provided [RCV000942171] Chr8:132948933 [GRCh38]
Chr8:133961178 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.6783-3C>T single nucleotide variant Iodotyrosyl coupling defect [RCV001163434]|not provided [RCV000907449] Chr8:133019599 [GRCh38]
Chr8:134031844 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.3417G>C (p.Ser1139=) single nucleotide variant not provided [RCV000886347] Chr8:132900323 [GRCh38]
Chr8:133912568 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.4696T>C (p.Leu1566=) single nucleotide variant not provided [RCV000908181] Chr8:132923505 [GRCh38]
Chr8:133935750 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.2964T>C (p.Arg988=) single nucleotide variant not provided [RCV000978478] Chr8:132893892 [GRCh38]
Chr8:133906137 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.6876+9A>C single nucleotide variant not provided [RCV000966373] Chr8:133019704 [GRCh38]
Chr8:134031949 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7135C>T (p.Arg2379Cys) single nucleotide variant not provided [RCV000888518] Chr8:133029919 [GRCh38]
Chr8:134042164 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.3351G>A (p.Leu1117=) single nucleotide variant not provided [RCV000910481] Chr8:132900257 [GRCh38]
Chr8:133912502 [GRCh37]
Chr8:8q24.22
benign
NM_003235.5(TG):c.1098C>T (p.Ser366=) single nucleotide variant not provided [RCV000918006] Chr8:132886470 [GRCh38]
Chr8:133898715 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7266C>T (p.Ala2422=) single nucleotide variant not provided [RCV000902418] Chr8:133095070 [GRCh38]
Chr8:134107314 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.7056C>A (p.Gly2352=) single nucleotide variant not provided [RCV000927098] Chr8:133029840 [GRCh38]
Chr8:134042085 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.1788T>A (p.Gly596=) single nucleotide variant not provided [RCV000929435] Chr8:132887160 [GRCh38]
Chr8:133899405 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.4551C>T (p.Asn1517=) single nucleotide variant not provided [RCV000930191] Chr8:132923360 [GRCh38]
Chr8:133935605 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.426C>T (p.Asp142=) single nucleotide variant Iodotyrosyl coupling defect [RCV001162778]|not provided [RCV000910498] Chr8:132871499 [GRCh38]
Chr8:133883744 [GRCh37]
Chr8:8q24.22
benign|uncertain significance
NM_003235.5(TG):c.3996G>T (p.Gln1332His) single nucleotide variant Iodotyrosyl coupling defect [RCV001158478] Chr8:132908334 [GRCh38]
Chr8:133920579 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5003G>A (p.Ser1668Asn) single nucleotide variant Iodotyrosyl coupling defect [RCV001158579] Chr8:132935826 [GRCh38]
Chr8:133948071 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6245C>T (p.Pro2082Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV001158693] Chr8:132983395 [GRCh38]
Chr8:133995640 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7405-9C>T single nucleotide variant Iodotyrosyl coupling defect [RCV001158806] Chr8:133096197 [GRCh38]
Chr8:134108441 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.8075C>T (p.Ala2692Val) single nucleotide variant Iodotyrosyl coupling defect [RCV001158913] Chr8:133133547 [GRCh38]
Chr8:134145791 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.8168C>T (p.Ser2723Leu) single nucleotide variant Iodotyrosyl coupling defect [RCV001158914] Chr8:133133640 [GRCh38]
Chr8:134145884 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.5375G>A (p.Arg1792His) single nucleotide variant Iodotyrosyl coupling defect [RCV001161802] Chr8:132948917 [GRCh38]
Chr8:133961162 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.6530G>A (p.Arg2177His) single nucleotide variant Iodotyrosyl coupling defect [RCV001161910] Chr8:133013732 [GRCh38]
Chr8:134025977 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2761+14T>C single nucleotide variant Iodotyrosyl coupling defect [RCV001162995] Chr8:132888582 [GRCh38]
Chr8:133900827 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.3407G>A (p.Arg1136Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV001163106] Chr8:132900313 [GRCh38]
Chr8:133912558 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.1049G>A (p.Arg350Gln) single nucleotide variant Iodotyrosyl coupling defect [RCV001159945] Chr8:132882973 [GRCh38]
Chr8:133895218 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2036G>A (p.Gly679Asp) single nucleotide variant Iodotyrosyl coupling defect [RCV001160052] Chr8:132887408 [GRCh38]
Chr8:133899653 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.2323A>C (p.Asn775His) single nucleotide variant Iodotyrosyl coupling defect [RCV001160055] Chr8:132888130 [GRCh38]
Chr8:133900375 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.7647C>T (p.Gly2549=) single nucleotide variant Iodotyrosyl coupling defect [RCV001163535] Chr8:133113496 [GRCh38]
Chr8:134125740 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_003235.5(TG):c.48G>A (p.Trp16Ter) single nucleotide variant Iodotyrosyl coupling defect [RCV001170075] Chr8:132867048 [GRCh38]
Chr8:133879293 [GRCh37]
Chr8:8q24.22
pathogenic
NM_003235.5(TG):c.7364G>A (p.Arg2455His) single nucleotide variant Iodotyrosyl coupling defect [RCV001158805]|not provided [RCV000913070] Chr8:133095168 [GRCh38]
Chr8:134107412 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_003235.5(TG):c.542C>A (p.Pro181His) single nucleotide variant not provided [RCV000913353] Chr8:132873125 [GRCh38]
Chr8:133885370 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.195C>T (p.Asn65=) single nucleotide variant not provided [RCV000933600] Chr8:132869747 [GRCh38]
Chr8:133881992 [GRCh37]
Chr8:8q24.22
likely benign
NM_003235.5(TG):c.1332C>T (p.Ile444=) single nucleotide variant Iodotyrosyl coupling defect [RCV001161339]|not provided [RCV000956672] Chr8:132886704 [GRCh38]
Chr8:133898949 [GRCh37]
Chr8:8q24.22
benign|likely benign
NM_003235.5(TG):c.4003-4G>A single nucleotide variant not provided [RCV000956673] Chr8:132911373 [GRCh38]
Chr8:133923618 [GRCh37]
Chr8:8q24.22
benign