THTPA (thiamine triphosphatase) - Rat Genome Database

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Gene: THTPA (thiamine triphosphatase) Homo sapiens
Analyze
Symbol: THTPA
Name: thiamine triphosphatase
RGD ID: 1344933
HGNC Page HGNC:18987
Description: Enables thiamine triphosphate phosphatase activity. Predicted to be involved in thiamine diphosphate metabolic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ33428; FLJ36892; MGC2652; RP11-66N24.4; thiamine-triphosphatase; THTP; THTPASE
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
GRCh381423,511,760 - 23,560,271 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1423,555,988 - 23,560,271 (+)EnsemblGRCh38hg38GRCh38
GRCh371423,980,969 - 24,029,480 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361423,095,071 - 23,098,592 (+)NCBINCBI36Build 36hg18NCBI36
Build 341423,095,070 - 23,098,592NCBI
Celera143,887,868 - 3,891,457 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef144,097,332 - 4,145,309 (+)NCBIHuRef
CHM1_11423,979,628 - 24,027,450 (+)NCBICHM1_1
T2T-CHM13v2.01417,712,320 - 17,760,830 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IEA,ISO,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3060175   PMID:8889548   PMID:11827967   PMID:12477932   PMID:12508121   PMID:12943234   PMID:14702039   PMID:15109578   PMID:15342556   PMID:15489334   PMID:16344560   PMID:17213182  
PMID:18029348   PMID:20387656   PMID:21873635   PMID:22939629   PMID:26186194   PMID:27025967   PMID:27432908   PMID:28514442   PMID:29791485   PMID:31091453   PMID:32296183   PMID:32353859  
PMID:32628020   PMID:32640226   PMID:33060197   PMID:33961781   PMID:35007762   PMID:36114006   PMID:36215168  


Genomics

Comparative Map Data
THTPA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381423,511,760 - 23,560,271 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1423,555,988 - 23,560,271 (+)EnsemblGRCh38hg38GRCh38
GRCh371423,980,969 - 24,029,480 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361423,095,071 - 23,098,592 (+)NCBINCBI36Build 36hg18NCBI36
Build 341423,095,070 - 23,098,592NCBI
Celera143,887,868 - 3,891,457 (+)NCBICelera
Cytogenetic Map14q11.2NCBI
HuRef144,097,332 - 4,145,309 (+)NCBIHuRef
CHM1_11423,979,628 - 24,027,450 (+)NCBICHM1_1
T2T-CHM13v2.01417,712,320 - 17,760,830 (+)NCBIT2T-CHM13v2.0
Thtpa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391455,332,241 - 55,336,452 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1455,332,241 - 55,336,443 (+)EnsemblGRCm39 Ensembl
GRCm381455,094,784 - 55,098,995 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1455,094,784 - 55,098,986 (+)EnsemblGRCm38mm10GRCm38
MGSCv371455,713,621 - 55,717,832 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361454,048,906 - 54,053,053 (+)NCBIMGSCv36mm8
Celera1452,900,681 - 52,904,892 (+)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1428.07NCBI
Thtpa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81532,536,297 - 32,541,537 (+)NCBIGRCr8
mRatBN7.21528,567,619 - 28,571,580 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1528,567,323 - 28,571,580 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1530,413,650 - 30,417,289 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01531,560,842 - 31,564,481 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01529,803,502 - 29,807,141 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01533,755,157 - 33,759,117 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1533,755,478 - 33,759,115 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01537,640,608 - 37,646,202 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41533,201,426 - 33,205,065 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11533,217,763 - 33,219,293 (+)NCBI
Celera1528,145,924 - 28,149,563 (+)NCBICelera
Cytogenetic Map15p13NCBI
Thtpa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540936,804,258 - 36,808,091 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540936,803,721 - 36,808,094 (-)NCBIChiLan1.0ChiLan1.0
THTPA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21524,986,749 - 24,990,593 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11424,203,241 - 24,207,085 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0144,374,439 - 4,378,028 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11422,467,506 - 22,471,356 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1422,467,506 - 22,471,356 (+)Ensemblpanpan1.1panPan2
THTPA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.183,781,931 - 3,785,093 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl83,782,163 - 3,785,394 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha83,703,805 - 3,708,801 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.083,892,212 - 3,897,208 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl83,892,317 - 3,898,687 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.183,584,212 - 3,588,417 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.083,644,873 - 3,649,869 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.083,906,958 - 3,911,954 (+)NCBIUU_Cfam_GSD_1.0
Thtpa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864035,485,267 - 35,532,974 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936722855,975 - 863,098 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936722858,119 - 904,630 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
THTPA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl775,545,973 - 75,552,904 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1775,548,430 - 75,553,721 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2780,862,681 - 80,867,802 (-)NCBISscrofa10.2Sscrofa10.2susScr3
THTPA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12923,883,363 - 23,930,710 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2923,926,813 - 23,929,981 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605922,487,907 - 22,534,963 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Thtpa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248209,020,179 - 9,022,057 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248209,010,936 - 9,022,935 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in THTPA
200 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3 copy number gain See cases [RCV000052058] Chr14:23260803..23763521 [GRCh38]
Chr14:23730012..24232730 [GRCh37]
Chr14:22799852..23302570 [NCBI36]
Chr14:14q11.2		 uncertain significance
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
NM_033400.2(ZFHX2):c.6536G>A (p.Arg2179Gln) single nucleotide variant Malignant melanoma [RCV000070503] Chr14:23523406 [GRCh38]
Chr14:23992615 [GRCh37]
Chr14:23062455 [NCBI36]
Chr14:14q11.2		 not provided
NM_033400.2(ZFHX2):c.2536G>A (p.Glu846Lys) single nucleotide variant Malignant melanoma [RCV000070504] Chr14:23532590 [GRCh38]
Chr14:24001799 [GRCh37]
Chr14:23071639 [NCBI36]
Chr14:14q11.2		 not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12		 likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) copy number gain not provided [RCV000767822] Chr14:19100682..28730087 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 copy number gain See cases [RCV000240285] Chr14:19794561..27768254 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_033400.3(ZFHX2):c.2227C>T (p.Arg743Trp) single nucleotide variant Inborn genetic diseases [RCV003272039] Chr14:23532899 [GRCh38]
Chr14:24002108 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7624T>A (p.Ser2542Thr) single nucleotide variant Inborn genetic diseases [RCV003255890] Chr14:23522057 [GRCh38]
Chr14:23991266 [GRCh37]
Chr14:14q11.2		 likely benign
NM_024328.6(THTPA):c.520A>C (p.Lys174Gln) single nucleotide variant Inborn genetic diseases [RCV003255079] Chr14:23557277 [GRCh38]
Chr14:24026486 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6199C>T (p.Arg2067Cys) single nucleotide variant Inborn genetic diseases [RCV003252447]|ZFHX2-related condition [RCV003906682] Chr14:23523743 [GRCh38]
Chr14:23992952 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_033400.3(ZFHX2):c.5738G>A (p.Arg1913Lys) single nucleotide variant Indifference to pain, congenital, autosomal dominant [RCV000576902] Chr14:23524204 [GRCh38]
Chr14:23993413 [GRCh37]
Chr14:14q11.2		 pathogenic
NM_033400.3(ZFHX2):c.1951G>A (p.Gly651Arg) single nucleotide variant Inborn genetic diseases [RCV003259226] Chr14:23533375 [GRCh38]
Chr14:24002584 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1859C>A (p.Pro620Gln) single nucleotide variant Inborn genetic diseases [RCV003296158] Chr14:23533467 [GRCh38]
Chr14:24002676 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.443C>G (p.Thr148Arg) single nucleotide variant Inborn genetic diseases [RCV003300046] Chr14:23557200 [GRCh38]
Chr14:24026409 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1414A>G (p.Met472Val) single nucleotide variant Inborn genetic diseases [RCV003292314] Chr14:23533912 [GRCh38]
Chr14:24003121 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5017A>T (p.Arg1673Trp) single nucleotide variant Inborn genetic diseases [RCV003262776] Chr14:23524925 [GRCh38]
Chr14:23994134 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5930C>A (p.Pro1977His) single nucleotide variant Inborn genetic diseases [RCV003282132] Chr14:23524012 [GRCh38]
Chr14:23993221 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2012G>A (p.Gly671Glu) single nucleotide variant Inborn genetic diseases [RCV003255484] Chr14:23533314 [GRCh38]
Chr14:24002523 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4780G>A (p.Gly1594Ser) single nucleotide variant Inborn genetic diseases [RCV003295999] Chr14:23525162 [GRCh38]
Chr14:23994371 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1162C>A (p.Pro388Thr) single nucleotide variant Inborn genetic diseases [RCV003277567] Chr14:23534164 [GRCh38]
Chr14:24003373 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2(chr14:23840034-24057640)x1 copy number loss not provided [RCV000683589] Chr14:23840034..24057640 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_033400.3(ZFHX2):c.4877A>G (p.Glu1626Gly) single nucleotide variant not provided [RCV003312277] Chr14:23525065 [GRCh38]
Chr14:23994274 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6034G>A (p.Glu2012Lys) single nucleotide variant Indifference to pain, congenital, autosomal dominant [RCV003459030] Chr14:23523908 [GRCh38]
Chr14:23993117 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4866C>T (p.Asp1622=) single nucleotide variant not provided [RCV000967321] Chr14:23525076 [GRCh38]
Chr14:23994285 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.5006C>T (p.Ala1669Val) single nucleotide variant not provided [RCV000950456] Chr14:23524936 [GRCh38]
Chr14:23994145 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.2134G>A (p.Asp712Asn) single nucleotide variant ZFHX2-related condition [RCV003915999]|not provided [RCV000959441] Chr14:23532992 [GRCh38]
Chr14:24002201 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.7394C>T (p.Pro2465Leu) single nucleotide variant ZFHX2-related condition [RCV003905961]|not provided [RCV000968916] Chr14:23522287 [GRCh38]
Chr14:23991496 [GRCh37]
Chr14:14q11.2		 benign
GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3 copy number gain not provided [RCV000856644] Chr14:21717093..24027220 [GRCh37]
Chr14:14q11.2		 likely pathogenic
NM_033400.3(ZFHX2):c.4953C>A (p.Arg1651=) single nucleotide variant ZFHX2-related condition [RCV003950806]|not provided [RCV000914570] Chr14:23524989 [GRCh38]
Chr14:23994198 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_033400.3(ZFHX2):c.1694C>G (p.Thr565Ser) single nucleotide variant Inborn genetic diseases [RCV003249813] Chr14:23533632 [GRCh38]
Chr14:24002841 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4233G>C (p.Glu1411Asp) single nucleotide variant Inborn genetic diseases [RCV003291794] Chr14:23525709 [GRCh38]
Chr14:23994918 [GRCh37]
Chr14:14q11.2		 uncertain significance
NC_000014.8:g.(?_23242819)_(25103366_?)dup duplication Lysinuric protein intolerance [RCV003105428]|Specific granule deficiency [RCV003105427] Chr14:23242819..25103366 [GRCh37]
Chr14:14q11.2-12		 uncertain significance
NM_033400.3(ZFHX2):c.5833C>T (p.Leu1945Phe) single nucleotide variant Inborn genetic diseases [RCV003250273] Chr14:23524109 [GRCh38]
Chr14:23993318 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.500C>T (p.Thr167Ile) single nucleotide variant Inborn genetic diseases [RCV003251145] Chr14:23534826 [GRCh38]
Chr14:24004035 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3594G>A (p.Glu1198=) single nucleotide variant not provided [RCV000917747] Chr14:23526348 [GRCh38]
Chr14:23995557 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.1677A>C (p.Gly559=) single nucleotide variant not provided [RCV000981161] Chr14:23533649 [GRCh38]
Chr14:24002858 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.1521C>T (p.Pro507=) single nucleotide variant not provided [RCV000981162] Chr14:23533805 [GRCh38]
Chr14:24003014 [GRCh37]
Chr14:14q11.2		 likely benign
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1		 not provided
NM_033400.3(ZFHX2):c.4018T>G (p.Phe1340Val) single nucleotide variant ZFHX2-related condition [RCV003930759]|not provided [RCV000889737] Chr14:23525924 [GRCh38]
Chr14:23995133 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.295G>C (p.Glu99Gln) single nucleotide variant ZFHX2-related condition [RCV003903302]|not provided [RCV000957198] Chr14:23535031 [GRCh38]
Chr14:24004240 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.6398C>A (p.Thr2133Asn) single nucleotide variant not provided [RCV000957905] Chr14:23523544 [GRCh38]
Chr14:23992753 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.5320T>A (p.Cys1774Ser) single nucleotide variant Inborn genetic diseases [RCV003295025] Chr14:23524622 [GRCh38]
Chr14:23993831 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2		 pathogenic
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_033400.3(ZFHX2):c.1190A>C (p.Lys397Thr) single nucleotide variant not provided [RCV001354610] Chr14:23534136 [GRCh38]
Chr14:24003345 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2875+23C>T single nucleotide variant Indifference to pain, congenital, autosomal dominant [RCV002245263] Chr14:23530097 [GRCh38]
Chr14:23999306 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.4424G>A (p.Gly1475Glu) single nucleotide variant not provided [RCV001726908] Chr14:23525518 [GRCh38]
Chr14:23994727 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6409A>C (p.Ser2137Arg) single nucleotide variant Indifference to pain, congenital, autosomal dominant [RCV002245260]|ZFHX2-related condition [RCV003973364] Chr14:23523533 [GRCh38]
Chr14:23992742 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.4634T>C (p.Val1545Ala) single nucleotide variant Indifference to pain, congenital, autosomal dominant [RCV002245261]|ZFHX2-related condition [RCV003971208] Chr14:23525308 [GRCh38]
Chr14:23994517 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.7613C>T (p.Ala2538Val) single nucleotide variant not provided [RCV001815759] Chr14:23522068 [GRCh38]
Chr14:23991277 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2918G>A (p.Ser973Asn) single nucleotide variant Inborn genetic diseases [RCV003101231]|not provided [RCV002211263] Chr14:23529726 [GRCh38]
Chr14:23998935 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3135+41T>C single nucleotide variant Indifference to pain, congenital, autosomal dominant [RCV002245262] Chr14:23527563 [GRCh38]
Chr14:23996772 [GRCh37]
Chr14:14q11.2		 benign
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_033400.3(ZFHX2):c.696C>T (p.His232=) single nucleotide variant not provided [RCV002275997] Chr14:23534630 [GRCh38]
Chr14:24003839 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.3503G>A (p.Arg1168His) single nucleotide variant not provided [RCV002292884] Chr14:23526439 [GRCh38]
Chr14:23995648 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.7109A>T (p.Tyr2370Phe) single nucleotide variant Inborn genetic diseases [RCV003261125] Chr14:23522572 [GRCh38]
Chr14:23991781 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6473A>G (p.Tyr2158Cys) single nucleotide variant Inborn genetic diseases [RCV002774205] Chr14:23523469 [GRCh38]
Chr14:23992678 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1762A>G (p.Met588Val) single nucleotide variant Inborn genetic diseases [RCV002905907] Chr14:23533564 [GRCh38]
Chr14:24002773 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_003917.5(AP1G2):c.2246A>G (p.Asn749Ser) single nucleotide variant Inborn genetic diseases [RCV002992409] Chr14:23559948 [GRCh38]
Chr14:24029157 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5362C>T (p.Arg1788Cys) single nucleotide variant Inborn genetic diseases [RCV002774552] Chr14:23524580 [GRCh38]
Chr14:23993789 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2238G>A (p.Pro746=) single nucleotide variant not provided [RCV002511773] Chr14:23532888 [GRCh38]
Chr14:24002097 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.2636C>T (p.Thr879Ile) single nucleotide variant Inborn genetic diseases [RCV002972801] Chr14:23531645 [GRCh38]
Chr14:24000854 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7073C>T (p.Pro2358Leu) single nucleotide variant Inborn genetic diseases [RCV002684730] Chr14:23522608 [GRCh38]
Chr14:23991817 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2453C>G (p.Pro818Arg) single nucleotide variant Inborn genetic diseases [RCV002879804] Chr14:23532673 [GRCh38]
Chr14:24001882 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4285G>A (p.Asp1429Asn) single nucleotide variant Inborn genetic diseases [RCV002946989] Chr14:23525657 [GRCh38]
Chr14:23994866 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6471C>A (p.Phe2157Leu) single nucleotide variant Inborn genetic diseases [RCV002997668] Chr14:23523471 [GRCh38]
Chr14:23992680 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.617C>A (p.Ala206Asp) single nucleotide variant Inborn genetic diseases [RCV002879547] Chr14:23534709 [GRCh38]
Chr14:24003918 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.57G>T (p.Glu19Asp) single nucleotide variant Inborn genetic diseases [RCV002793922] Chr14:23556814 [GRCh38]
Chr14:24026023 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5563C>T (p.Pro1855Ser) single nucleotide variant Inborn genetic diseases [RCV002970113] Chr14:23524379 [GRCh38]
Chr14:23993588 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1918C>G (p.Leu640Val) single nucleotide variant Inborn genetic diseases [RCV002864784] Chr14:23533408 [GRCh38]
Chr14:24002617 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.728G>A (p.Arg243His) single nucleotide variant Inborn genetic diseases [RCV002945950] Chr14:23534598 [GRCh38]
Chr14:24003807 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.537A>C (p.Gln179His) single nucleotide variant Inborn genetic diseases [RCV002990068] Chr14:23534789 [GRCh38]
Chr14:24003998 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5509G>A (p.Gly1837Ser) single nucleotide variant Inborn genetic diseases [RCV002733365] Chr14:23524433 [GRCh38]
Chr14:23993642 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3109G>A (p.Glu1037Lys) single nucleotide variant Inborn genetic diseases [RCV002972770] Chr14:23527630 [GRCh38]
Chr14:23996839 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5188G>A (p.Gly1730Arg) single nucleotide variant Inborn genetic diseases [RCV002754671] Chr14:23524754 [GRCh38]
Chr14:23993963 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4078C>G (p.Gln1360Glu) single nucleotide variant Inborn genetic diseases [RCV002684648]|not provided [RCV003427670] Chr14:23525864 [GRCh38]
Chr14:23995073 [GRCh37]
Chr14:14q11.2		 benign|uncertain significance
NM_033400.3(ZFHX2):c.5198G>T (p.Gly1733Val) single nucleotide variant Inborn genetic diseases [RCV002973558] Chr14:23524744 [GRCh38]
Chr14:23993953 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2627C>T (p.Ala876Val) single nucleotide variant not provided [RCV002511772] Chr14:23531654 [GRCh38]
Chr14:24000863 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.1086A>C (p.Glu362Asp) single nucleotide variant Inborn genetic diseases [RCV002864000] Chr14:23534240 [GRCh38]
Chr14:24003449 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5764G>T (p.Gly1922Trp) single nucleotide variant Inborn genetic diseases [RCV002684391] Chr14:23524178 [GRCh38]
Chr14:23993387 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.566C>T (p.Thr189Ile) single nucleotide variant Inborn genetic diseases [RCV002749097] Chr14:23558713 [GRCh38]
Chr14:24027922 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4693C>T (p.Pro1565Ser) single nucleotide variant Inborn genetic diseases [RCV002864785] Chr14:23525249 [GRCh38]
Chr14:23994458 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4688G>A (p.Arg1563His) single nucleotide variant Inborn genetic diseases [RCV002689576] Chr14:23525254 [GRCh38]
Chr14:23994463 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.1915G>A (p.Ala639Thr) single nucleotide variant Inborn genetic diseases [RCV002759887] Chr14:23533411 [GRCh38]
Chr14:24002620 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.496C>G (p.Leu166Val) single nucleotide variant Inborn genetic diseases [RCV003001773]|ZFHX2-related condition [RCV003918986] Chr14:23534830 [GRCh38]
Chr14:24004039 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_033400.3(ZFHX2):c.652G>A (p.Gly218Arg) single nucleotide variant Inborn genetic diseases [RCV002661338] Chr14:23534674 [GRCh38]
Chr14:24003883 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1949C>T (p.Pro650Leu) single nucleotide variant Inborn genetic diseases [RCV002660673]|ZFHX2-related condition [RCV003953972] Chr14:23533377 [GRCh38]
Chr14:24002586 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_033400.3(ZFHX2):c.4559G>A (p.Arg1520Gln) single nucleotide variant Inborn genetic diseases [RCV002911746] Chr14:23525383 [GRCh38]
Chr14:23994592 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2059C>G (p.Pro687Ala) single nucleotide variant Inborn genetic diseases [RCV002978076] Chr14:23533067 [GRCh38]
Chr14:24002276 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1547C>G (p.Ser516Cys) single nucleotide variant Inborn genetic diseases [RCV002661529] Chr14:23533779 [GRCh38]
Chr14:24002988 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2024G>A (p.Arg675His) single nucleotide variant Inborn genetic diseases [RCV002799637] Chr14:23533302 [GRCh38]
Chr14:24002511 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1852C>A (p.Pro618Thr) single nucleotide variant Inborn genetic diseases [RCV002783833] Chr14:23533474 [GRCh38]
Chr14:24002683 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1163C>A (p.Pro388Gln) single nucleotide variant Inborn genetic diseases [RCV002739362] Chr14:23534163 [GRCh38]
Chr14:24003372 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6760C>T (p.Leu2254Phe) single nucleotide variant Inborn genetic diseases [RCV002950394] Chr14:23522921 [GRCh38]
Chr14:23992130 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7021T>A (p.Leu2341Met) single nucleotide variant Inborn genetic diseases [RCV002692335] Chr14:23522660 [GRCh38]
Chr14:23991869 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1337C>T (p.Ser446Leu) single nucleotide variant Inborn genetic diseases [RCV002868389] Chr14:23533989 [GRCh38]
Chr14:24003198 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_003917.5(AP1G2):c.2207G>A (p.Arg736Gln) single nucleotide variant Inborn genetic diseases [RCV002951552] Chr14:23559987 [GRCh38]
Chr14:24029196 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.2760G>C (p.Gln920His) single nucleotide variant Inborn genetic diseases [RCV002784694] Chr14:23531521 [GRCh38]
Chr14:24000730 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7691C>T (p.Thr2564Met) single nucleotide variant Inborn genetic diseases [RCV002980387] Chr14:23521990 [GRCh38]
Chr14:23991199 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1753C>T (p.Arg585Cys) single nucleotide variant Inborn genetic diseases [RCV002737778] Chr14:23533573 [GRCh38]
Chr14:24002782 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5950G>A (p.Gly1984Arg) single nucleotide variant Inborn genetic diseases [RCV002783595] Chr14:23523992 [GRCh38]
Chr14:23993201 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2950T>C (p.Tyr984His) single nucleotide variant Inborn genetic diseases [RCV002822621] Chr14:23527789 [GRCh38]
Chr14:23996998 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3572A>G (p.Tyr1191Cys) single nucleotide variant Inborn genetic diseases [RCV002983159] Chr14:23526370 [GRCh38]
Chr14:23995579 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3062G>A (p.Arg1021Gln) single nucleotide variant Inborn genetic diseases [RCV002983338] Chr14:23527677 [GRCh38]
Chr14:23996886 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2753C>G (p.Ala918Gly) single nucleotide variant Inborn genetic diseases [RCV002789601] Chr14:23531528 [GRCh38]
Chr14:24000737 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1048A>C (p.Thr350Pro) single nucleotide variant Inborn genetic diseases [RCV002713723] Chr14:23534278 [GRCh38]
Chr14:24003487 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.670C>T (p.Pro224Ser) single nucleotide variant Inborn genetic diseases [RCV002804469] Chr14:23534656 [GRCh38]
Chr14:24003865 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1975G>A (p.Glu659Lys) single nucleotide variant Inborn genetic diseases [RCV003006779] Chr14:23533351 [GRCh38]
Chr14:24002560 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1085A>G (p.Glu362Gly) single nucleotide variant Inborn genetic diseases [RCV002984713] Chr14:23534241 [GRCh38]
Chr14:24003450 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4510C>T (p.Arg1504Cys) single nucleotide variant Inborn genetic diseases [RCV002875298] Chr14:23525432 [GRCh38]
Chr14:23994641 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7076C>A (p.Pro2359Gln) single nucleotide variant Inborn genetic diseases [RCV002763351] Chr14:23522605 [GRCh38]
Chr14:23991814 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5731C>T (p.Arg1911Trp) single nucleotide variant Inborn genetic diseases [RCV002874595] Chr14:23524211 [GRCh38]
Chr14:23993420 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4511G>A (p.Arg1504His) single nucleotide variant Inborn genetic diseases [RCV002850216] Chr14:23525431 [GRCh38]
Chr14:23994640 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7427T>A (p.Phe2476Tyr) single nucleotide variant Inborn genetic diseases [RCV002709219] Chr14:23522254 [GRCh38]
Chr14:23991463 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3694G>A (p.Gly1232Arg) single nucleotide variant Inborn genetic diseases [RCV002641136] Chr14:23526248 [GRCh38]
Chr14:23995457 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5734G>A (p.Glu1912Lys) single nucleotide variant Inborn genetic diseases [RCV002788834] Chr14:23524208 [GRCh38]
Chr14:23993417 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4310G>A (p.Arg1437His) single nucleotide variant Inborn genetic diseases [RCV002744937] Chr14:23525632 [GRCh38]
Chr14:23994841 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.896G>A (p.Arg299His) single nucleotide variant Inborn genetic diseases [RCV002698631] Chr14:23534430 [GRCh38]
Chr14:24003639 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7297G>A (p.Asp2433Asn) single nucleotide variant Inborn genetic diseases [RCV002708965] Chr14:23522384 [GRCh38]
Chr14:23991593 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4885G>A (p.Ala1629Thr) single nucleotide variant Inborn genetic diseases [RCV002764289] Chr14:23525057 [GRCh38]
Chr14:23994266 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3838A>G (p.Lys1280Glu) single nucleotide variant Inborn genetic diseases [RCV002767069] Chr14:23526104 [GRCh38]
Chr14:23995313 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6734A>G (p.Asn2245Ser) single nucleotide variant Inborn genetic diseases [RCV002983405] Chr14:23523208 [GRCh38]
Chr14:23992417 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.7393C>T (p.Pro2465Ser) single nucleotide variant Inborn genetic diseases [RCV002743392] Chr14:23522288 [GRCh38]
Chr14:23991497 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7544G>A (p.Arg2515His) single nucleotide variant Inborn genetic diseases [RCV002645206] Chr14:23522137 [GRCh38]
Chr14:23991346 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.638A>G (p.Asn213Ser) single nucleotide variant Inborn genetic diseases [RCV002666471] Chr14:23558785 [GRCh38]
Chr14:24027994 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2465G>A (p.Arg822His) single nucleotide variant Inborn genetic diseases [RCV002696526] Chr14:23532661 [GRCh38]
Chr14:24001870 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.32A>G (p.Lys11Arg) single nucleotide variant Inborn genetic diseases [RCV002763028] Chr14:23556789 [GRCh38]
Chr14:24025998 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4951C>G (p.Arg1651Gly) single nucleotide variant Inborn genetic diseases [RCV002878864] Chr14:23524991 [GRCh38]
Chr14:23994200 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.382C>A (p.Leu128Met) single nucleotide variant Inborn genetic diseases [RCV002813432] Chr14:23534944 [GRCh38]
Chr14:24004153 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4784G>A (p.Arg1595His) single nucleotide variant Inborn genetic diseases [RCV002768871] Chr14:23525158 [GRCh38]
Chr14:23994367 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7432C>T (p.Arg2478Trp) single nucleotide variant Inborn genetic diseases [RCV002988103] Chr14:23522249 [GRCh38]
Chr14:23991458 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.436G>A (p.Glu146Lys) single nucleotide variant Inborn genetic diseases [RCV002960530]|ZFHX2-related condition [RCV003946384] Chr14:23534890 [GRCh38]
Chr14:24004099 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_033400.3(ZFHX2):c.4513C>T (p.Arg1505Cys) single nucleotide variant Inborn genetic diseases [RCV002769524] Chr14:23525429 [GRCh38]
Chr14:23994638 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_003917.5(AP1G2):c.2329A>C (p.Asn777His) single nucleotide variant Inborn genetic diseases [RCV002668632] Chr14:23559778 [GRCh38]
Chr14:24028987 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2020G>A (p.Ala674Thr) single nucleotide variant Inborn genetic diseases [RCV002855505] Chr14:23533306 [GRCh38]
Chr14:24002515 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2582C>T (p.Ala861Val) single nucleotide variant Inborn genetic diseases [RCV002648849] Chr14:23531699 [GRCh38]
Chr14:24000908 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1094T>G (p.Val365Gly) single nucleotide variant Inborn genetic diseases [RCV002807833] Chr14:23534232 [GRCh38]
Chr14:24003441 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5281G>A (p.Ala1761Thr) single nucleotide variant Inborn genetic diseases [RCV002961282] Chr14:23524661 [GRCh38]
Chr14:23993870 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6530C>T (p.Ala2177Val) single nucleotide variant Inborn genetic diseases [RCV002668780] Chr14:23523412 [GRCh38]
Chr14:23992621 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5494C>T (p.Arg1832Trp) single nucleotide variant Inborn genetic diseases [RCV002673546] Chr14:23524448 [GRCh38]
Chr14:23993657 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2792G>A (p.Arg931Gln) single nucleotide variant Inborn genetic diseases [RCV002965250]|ZFHX2-related condition [RCV003973745] Chr14:23531489 [GRCh38]
Chr14:24000698 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_033400.3(ZFHX2):c.2683C>T (p.Arg895Cys) single nucleotide variant Inborn genetic diseases [RCV002673142] Chr14:23531598 [GRCh38]
Chr14:24000807 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3895G>A (p.Glu1299Lys) single nucleotide variant Inborn genetic diseases [RCV002964924]|not provided [RCV003456561] Chr14:23526047 [GRCh38]
Chr14:23995256 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_033400.3(ZFHX2):c.569A>G (p.His190Arg) single nucleotide variant Inborn genetic diseases [RCV002809588] Chr14:23534757 [GRCh38]
Chr14:24003966 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2983G>A (p.Val995Met) single nucleotide variant Inborn genetic diseases [RCV002678969] Chr14:23527756 [GRCh38]
Chr14:23996965 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5326A>G (p.Ile1776Val) single nucleotide variant Inborn genetic diseases [RCV002678006] Chr14:23524616 [GRCh38]
Chr14:23993825 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2093G>A (p.Gly698Asp) single nucleotide variant Inborn genetic diseases [RCV002657471] Chr14:23533033 [GRCh38]
Chr14:24002242 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.838G>C (p.Glu280Gln) single nucleotide variant Inborn genetic diseases [RCV002724313] Chr14:23534488 [GRCh38]
Chr14:24003697 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2114C>A (p.Pro705His) single nucleotide variant Inborn genetic diseases [RCV002724922] Chr14:23533012 [GRCh38]
Chr14:24002221 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5136A>C (p.Glu1712Asp) single nucleotide variant Inborn genetic diseases [RCV003279939] Chr14:23524806 [GRCh38]
Chr14:23994015 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.472G>A (p.Val158Ile) single nucleotide variant Inborn genetic diseases [RCV003257593] Chr14:23557229 [GRCh38]
Chr14:24026438 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1163C>G (p.Pro388Arg) single nucleotide variant Inborn genetic diseases [RCV003297913] Chr14:23534163 [GRCh38]
Chr14:24003372 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2668C>T (p.Arg890Cys) single nucleotide variant Inborn genetic diseases [RCV003193664] Chr14:23531613 [GRCh38]
Chr14:24000822 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7562G>A (p.Arg2521His) single nucleotide variant Inborn genetic diseases [RCV003204420] Chr14:23522119 [GRCh38]
Chr14:23991328 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6850G>A (p.Asp2284Asn) single nucleotide variant Inborn genetic diseases [RCV003181102] Chr14:23522831 [GRCh38]
Chr14:23992040 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3922A>C (p.Lys1308Gln) single nucleotide variant Inborn genetic diseases [RCV003209202] Chr14:23526020 [GRCh38]
Chr14:23995229 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6568G>A (p.Asp2190Asn) single nucleotide variant Inborn genetic diseases [RCV003204698] Chr14:23523374 [GRCh38]
Chr14:23992583 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.562G>C (p.Glu188Gln) single nucleotide variant Inborn genetic diseases [RCV003177838] Chr14:23558709 [GRCh38]
Chr14:24027918 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1272C>G (p.Asp424Glu) single nucleotide variant Inborn genetic diseases [RCV003191956] Chr14:23534054 [GRCh38]
Chr14:24003263 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5384C>T (p.Ser1795Phe) single nucleotide variant Inborn genetic diseases [RCV003175967] Chr14:23524558 [GRCh38]
Chr14:23993767 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4604A>C (p.Lys1535Thr) single nucleotide variant Inborn genetic diseases [RCV003220429] Chr14:23525338 [GRCh38]
Chr14:23994547 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7543C>T (p.Arg2515Cys) single nucleotide variant Inborn genetic diseases [RCV003192698] Chr14:23522138 [GRCh38]
Chr14:23991347 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.65T>C (p.Leu22Pro) single nucleotide variant Inborn genetic diseases [RCV003194703] Chr14:23556822 [GRCh38]
Chr14:24026031 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.298G>A (p.Glu100Lys) single nucleotide variant Inborn genetic diseases [RCV003219607] Chr14:23535028 [GRCh38]
Chr14:24004237 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3115G>A (p.Val1039Ile) single nucleotide variant Inborn genetic diseases [RCV003191126] Chr14:23527624 [GRCh38]
Chr14:23996833 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3088C>G (p.His1030Asp) single nucleotide variant Inborn genetic diseases [RCV003214863] Chr14:23527651 [GRCh38]
Chr14:23996860 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4327C>T (p.Leu1443Phe) single nucleotide variant Inborn genetic diseases [RCV003185419] Chr14:23525615 [GRCh38]
Chr14:23994824 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1885C>G (p.Pro629Ala) single nucleotide variant Inborn genetic diseases [RCV003213238] Chr14:23533441 [GRCh38]
Chr14:24002650 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7348C>T (p.Arg2450Cys) single nucleotide variant Inborn genetic diseases [RCV003173836] Chr14:23522333 [GRCh38]
Chr14:23991542 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7349G>A (p.Arg2450His) single nucleotide variant Inborn genetic diseases [RCV003208426] Chr14:23522332 [GRCh38]
Chr14:23991541 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6197G>A (p.Arg2066Gln) single nucleotide variant Inborn genetic diseases [RCV003190023] Chr14:23523745 [GRCh38]
Chr14:23992954 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5621G>A (p.Arg1874His) single nucleotide variant Inborn genetic diseases [RCV003191722]|ZFHX2-related condition [RCV003966291] Chr14:23524321 [GRCh38]
Chr14:23993530 [GRCh37]
Chr14:14q11.2		 likely benign|uncertain significance
NM_033400.3(ZFHX2):c.1151G>C (p.Gly384Ala) single nucleotide variant Inborn genetic diseases [RCV003185379] Chr14:23534175 [GRCh38]
Chr14:24003384 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7445G>A (p.Gly2482Asp) single nucleotide variant Inborn genetic diseases [RCV003179193] Chr14:23522236 [GRCh38]
Chr14:23991445 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3830G>A (p.Arg1277Gln) single nucleotide variant Inborn genetic diseases [RCV003305276] Chr14:23526112 [GRCh38]
Chr14:23995321 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.391G>A (p.Val131Met) single nucleotide variant Inborn genetic diseases [RCV003261818] Chr14:23557148 [GRCh38]
Chr14:24026357 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.7586G>A (p.Gly2529Asp) single nucleotide variant ZFHX2-related condition [RCV003954088]|not provided [RCV003326889] Chr14:23522095 [GRCh38]
Chr14:23991304 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.6964T>A (p.Ser2322Thr) single nucleotide variant Inborn genetic diseases [RCV003343529] Chr14:23522717 [GRCh38]
Chr14:23991926 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.119A>G (p.Tyr40Cys) single nucleotide variant Inborn genetic diseases [RCV003359091] Chr14:23556876 [GRCh38]
Chr14:24026085 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4703G>A (p.Arg1568Gln) single nucleotide variant Inborn genetic diseases [RCV003361286] Chr14:23525239 [GRCh38]
Chr14:23994448 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.7361G>A (p.Arg2454His) single nucleotide variant Inborn genetic diseases [RCV003345117] Chr14:23522320 [GRCh38]
Chr14:23991529 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.41C>T (p.Pro14Leu) single nucleotide variant Inborn genetic diseases [RCV003379783] Chr14:23556798 [GRCh38]
Chr14:24026007 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5639C>T (p.Ser1880Phe) single nucleotide variant Inborn genetic diseases [RCV003359975] Chr14:23524303 [GRCh38]
Chr14:23993512 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6331G>A (p.Val2111Ile) single nucleotide variant Inborn genetic diseases [RCV003371395] Chr14:23523611 [GRCh38]
Chr14:23992820 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1691A>C (p.Lys564Thr) single nucleotide variant Inborn genetic diseases [RCV003369771] Chr14:23533635 [GRCh38]
Chr14:24002844 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6965C>A (p.Ser2322Tyr) single nucleotide variant Inborn genetic diseases [RCV003352472] Chr14:23522716 [GRCh38]
Chr14:23991925 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5696G>A (p.Arg1899Gln) single nucleotide variant Inborn genetic diseases [RCV003356359] Chr14:23524246 [GRCh38]
Chr14:23993455 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.745C>T (p.Pro249Ser) single nucleotide variant Inborn genetic diseases [RCV003375091] Chr14:23534581 [GRCh38]
Chr14:24003790 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6043A>C (p.Lys2015Gln) single nucleotide variant Inborn genetic diseases [RCV003376825] Chr14:23523899 [GRCh38]
Chr14:23993108 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5620C>T (p.Arg1874Cys) single nucleotide variant Inborn genetic diseases [RCV003384903] Chr14:23524322 [GRCh38]
Chr14:23993531 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_024328.6(THTPA):c.29G>T (p.Arg10Leu) single nucleotide variant Inborn genetic diseases [RCV003352266] Chr14:23556786 [GRCh38]
Chr14:24025995 [GRCh37]
Chr14:14q11.2		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
NM_033400.3(ZFHX2):c.2571C>A (p.Asp857Glu) single nucleotide variant not provided [RCV003456864] Chr14:23531710 [GRCh38]
Chr14:24000919 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.7104G>A (p.Gly2368=) single nucleotide variant not provided [RCV003424966] Chr14:23522577 [GRCh38]
Chr14:23991786 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.6003C>T (p.Pro2001=) single nucleotide variant not provided [RCV003424967] Chr14:23523939 [GRCh38]
Chr14:23993148 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.2628G>A (p.Ala876=) single nucleotide variant not provided [RCV003424975] Chr14:23531653 [GRCh38]
Chr14:24000862 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.2464C>T (p.Arg822Cys) single nucleotide variant not provided [RCV003424976] Chr14:23532662 [GRCh38]
Chr14:24001871 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.1471G>A (p.Ala491Thr) single nucleotide variant not provided [RCV003456865] Chr14:23533855 [GRCh38]
Chr14:24003064 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.4227G>A (p.Glu1409=) single nucleotide variant not provided [RCV003424970] Chr14:23525715 [GRCh38]
Chr14:23994924 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.1440C>T (p.Asn480=) single nucleotide variant not provided [RCV003424980] Chr14:23533886 [GRCh38]
Chr14:24003095 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.621C>T (p.Phe207=) single nucleotide variant not provided [RCV003424982] Chr14:23534705 [GRCh38]
Chr14:24003914 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.5406C>G (p.Pro1802=) single nucleotide variant ZFHX2-related condition [RCV003946535]|not provided [RCV003424969] Chr14:23524536 [GRCh38]
Chr14:23993745 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.3197T>C (p.Leu1066Pro) single nucleotide variant not provided [RCV003424973] Chr14:23526912 [GRCh38]
Chr14:23996121 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.3076T>C (p.Phe1026Leu) single nucleotide variant not provided [RCV003424974] Chr14:23527663 [GRCh38]
Chr14:23996872 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.1779C>T (p.His593=) single nucleotide variant not provided [RCV003424979] Chr14:23533547 [GRCh38]
Chr14:24002756 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.312del (p.Leu105fs) deletion ZFHX2-related condition [RCV003402930] Chr14:23535014 [GRCh38]
Chr14:24004223 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.2377C>T (p.Arg793Trp) single nucleotide variant not provided [RCV003424977] Chr14:23532749 [GRCh38]
Chr14:24001958 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.1841G>A (p.Gly614Glu) single nucleotide variant ZFHX2-related condition [RCV003954138]|not provided [RCV003424978] Chr14:23533485 [GRCh38]
Chr14:24002694 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.5792C>G (p.Pro1931Arg) single nucleotide variant not provided [RCV003424968] Chr14:23524150 [GRCh38]
Chr14:23993359 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.4008A>C (p.Pro1336=) single nucleotide variant not provided [RCV003424971] Chr14:23525934 [GRCh38]
Chr14:23995143 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.3219C>A (p.Pro1073=) single nucleotide variant not provided [RCV003424972] Chr14:23526890 [GRCh38]
Chr14:23996099 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.1104C>T (p.Gly368=) single nucleotide variant not provided [RCV003424981] Chr14:23534222 [GRCh38]
Chr14:24003431 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.385T>C (p.Ser129Pro) single nucleotide variant ZFHX2-related condition [RCV003939260]|not provided [RCV003885726] Chr14:23534941 [GRCh38]
Chr14:24004150 [GRCh37]
Chr14:14q11.2		 benign|likely benign
NM_033400.3(ZFHX2):c.2705G>A (p.Arg902His) single nucleotide variant ZFHX2-related condition [RCV003919853] Chr14:23531576 [GRCh38]
Chr14:24000785 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.6711G>A (p.Pro2237=) single nucleotide variant not provided [RCV003884912] Chr14:23523231 [GRCh38]
Chr14:23992440 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.4284C>T (p.Pro1428=) single nucleotide variant not provided [RCV003884944] Chr14:23525658 [GRCh38]
Chr14:23994867 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.2133C>T (p.Asp711=) single nucleotide variant ZFHX2-related condition [RCV003952312] Chr14:23532993 [GRCh38]
Chr14:24002202 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.3555C>T (p.Leu1185=) single nucleotide variant not provided [RCV003885738] Chr14:23526387 [GRCh38]
Chr14:23995596 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.2373C>T (p.His791=) single nucleotide variant ZFHX2-related condition [RCV003912258] Chr14:23532753 [GRCh38]
Chr14:24001962 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.1648C>A (p.Pro550Thr) single nucleotide variant ZFHX2-related condition [RCV003982298] Chr14:23533678 [GRCh38]
Chr14:24002887 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.6758G>A (p.Gly2253Asp) single nucleotide variant ZFHX2-related condition [RCV003941946] Chr14:23522923 [GRCh38]
Chr14:23992132 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.4584G>A (p.Pro1528=) single nucleotide variant ZFHX2-related condition [RCV003914466] Chr14:23525358 [GRCh38]
Chr14:23994567 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.5406C>A (p.Pro1802=) single nucleotide variant ZFHX2-related condition [RCV003976740] Chr14:23524536 [GRCh38]
Chr14:23993745 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.2104_2106dup (p.Asp702_Ser703insAsp) duplication not provided [RCV003886771] Chr14:23533019..23533020 [GRCh38]
Chr14:24002228..24002229 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5100G>A (p.Glu1700=) single nucleotide variant ZFHX2-related condition [RCV003961410] Chr14:23524842 [GRCh38]
Chr14:23994051 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.4034T>C (p.Leu1345Pro) single nucleotide variant ZFHX2-related condition [RCV003951455] Chr14:23525908 [GRCh38]
Chr14:23995117 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.6664C>T (p.Arg2222Cys) single nucleotide variant ZFHX2-related condition [RCV003924731] Chr14:23523278 [GRCh38]
Chr14:23992487 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.3435C>G (p.Thr1145=) single nucleotide variant ZFHX2-related condition [RCV003952213] Chr14:23526507 [GRCh38]
Chr14:23995716 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.6306T>C (p.Ile2102=) single nucleotide variant ZFHX2-related condition [RCV003926866] Chr14:23523636 [GRCh38]
Chr14:23992845 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.910A>T (p.Ile304Leu) single nucleotide variant ZFHX2-related condition [RCV003921868] Chr14:23534416 [GRCh38]
Chr14:24003625 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.6381G>C (p.Gly2127=) single nucleotide variant ZFHX2-related condition [RCV003944690] Chr14:23523561 [GRCh38]
Chr14:23992770 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.5679G>A (p.Glu1893=) single nucleotide variant ZFHX2-related condition [RCV003927397] Chr14:23524263 [GRCh38]
Chr14:23993472 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.1089G>A (p.Ser363=) single nucleotide variant ZFHX2-related condition [RCV003909564] Chr14:23534237 [GRCh38]
Chr14:24003446 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.3616C>T (p.Leu1206=) single nucleotide variant ZFHX2-related condition [RCV003952181] Chr14:23526326 [GRCh38]
Chr14:23995535 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.5601G>A (p.Glu1867=) single nucleotide variant ZFHX2-related condition [RCV003981621] Chr14:23524341 [GRCh38]
Chr14:23993550 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.6613C>A (p.Pro2205Thr) single nucleotide variant not provided [RCV003887548] Chr14:23523329 [GRCh38]
Chr14:23992538 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5565C>G (p.Pro1855=) single nucleotide variant ZFHX2-related condition [RCV003971434] Chr14:23524377 [GRCh38]
Chr14:23993586 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.2070C>T (p.His690=) single nucleotide variant ZFHX2-related condition [RCV003949543] Chr14:23533056 [GRCh38]
Chr14:24002265 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.6930C>T (p.Ser2310=) single nucleotide variant ZFHX2-related condition [RCV003971639] Chr14:23522751 [GRCh38]
Chr14:23991960 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.6210C>A (p.Thr2070=) single nucleotide variant ZFHX2-related condition [RCV003924594] Chr14:23523732 [GRCh38]
Chr14:23992941 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.3842C>G (p.Thr1281Ser) single nucleotide variant not provided [RCV003884195] Chr14:23526100 [GRCh38]
Chr14:23995309 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.5011G>A (p.Gly1671Ser) single nucleotide variant not provided [RCV003885033] Chr14:23524931 [GRCh38]
Chr14:23994140 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.5859C>G (p.Gly1953=) single nucleotide variant ZFHX2-related condition [RCV003911739] Chr14:23524083 [GRCh38]
Chr14:23993292 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.3243G>A (p.Pro1081=) single nucleotide variant ZFHX2-related condition [RCV003977177] Chr14:23526866 [GRCh38]
Chr14:23996075 [GRCh37]
Chr14:14q11.2		 likely benign
NM_033400.3(ZFHX2):c.6400G>A (p.Gly2134Arg) single nucleotide variant not provided [RCV003884209] Chr14:23523542 [GRCh38]
Chr14:23992751 [GRCh37]
Chr14:14q11.2		 uncertain significance
NM_033400.3(ZFHX2):c.6503G>A (p.Arg2168His) single nucleotide variant ZFHX2-related condition [RCV003972046] Chr14:23523439 [GRCh38]
Chr14:23992648 [GRCh37]
Chr14:14q11.2		 benign
NM_033400.3(ZFHX2):c.4194C>T (p.Pro1398=) single nucleotide variant ZFHX2-related condition [RCV003922171] Chr14:23525748 [GRCh38]
Chr14:23994957 [GRCh37]
Chr14:14q11.2		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3107
Count of miRNA genes:897
Interacting mature miRNAs:1093
Transcripts:ENST00000288014, ENST00000404535, ENST00000554789, ENST00000554970, ENST00000556015, ENST00000556545, ENST00000557630
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.

Markers in Region
HSC22E052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,028,840 - 24,029,024UniSTSGRCh37
Build 361423,098,680 - 23,098,864RGDNCBI36
Celera143,891,510 - 3,891,694RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,145,359 - 4,145,543UniSTS
GeneMap99-GB4 RH Map1420.64UniSTS
Whitehead-RH Map1426.9UniSTS
NCBI RH Map1438.0UniSTS
RH64872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,028,586 - 24,028,714UniSTSGRCh37
Build 361423,098,426 - 23,098,554RGDNCBI36
Celera143,891,256 - 3,891,384RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,145,105 - 4,145,233UniSTS
GeneMap99-GB4 RH Map1419.84UniSTS
NCBI RH Map1438.0UniSTS
RH44758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,027,931 - 24,028,030UniSTSGRCh37
Build 361423,097,771 - 23,097,870RGDNCBI36
Celera143,890,601 - 3,890,700RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,144,450 - 4,144,549UniSTS
GeneMap99-GB4 RH Map1420.64UniSTS
NCBI RH Map1431.0UniSTS
SHGC-24169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,028,663 - 24,028,778UniSTSGRCh37
Build 361423,098,503 - 23,098,618RGDNCBI36
Celera143,891,333 - 3,891,448RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,145,182 - 4,145,297UniSTS
GeneMap99-G3 RH Map14381.0UniSTS
A005Y33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,028,797 - 24,028,999UniSTSGRCh37
Build 361423,098,637 - 23,098,839RGDNCBI36
Celera143,891,467 - 3,891,669RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,145,316 - 4,145,518UniSTS
GeneMap99-GB4 RH Map1420.64UniSTS
NCBI RH Map1438.0UniSTS
D14S671E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,028,663 - 24,028,734UniSTSGRCh37
Build 361423,098,503 - 23,098,574RGDNCBI36
Celera143,891,333 - 3,891,404RGD
Cytogenetic Map14q11.2UniSTS
HuRef144,145,182 - 4,145,253UniSTS
GeneMap99-GB4 RH Map1419.84UniSTS
NCBI RH Map1438.0UniSTS
THTPA__5257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371424,028,182 - 24,028,962UniSTSGRCh37
Build 361423,098,022 - 23,098,802RGDNCBI36
Celera143,890,852 - 3,891,632RGD
HuRef144,144,701 - 4,145,481UniSTS
D11S3732  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 715 464 979 90 268 23 1425 649 1230 80 1045 975 68 464 1046
Low 1724 2508 736 524 1678 432 2931 1533 2504 335 409 637 106 1 740 1742 5 2
Below cutoff 19 11 10 4 10 14 3 5 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001126339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_023314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF432862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI488427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI522644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI836092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM673249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM925597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP358780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ182954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU535676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX161435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX378775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB054399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA218228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA952722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB044416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB122722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB257923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT220066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY035323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000288014   ⟹   ENSP00000288014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1423,556,271 - 23,560,271 (+)Ensembl
RefSeq Acc Id: ENST00000404535   ⟹   ENSP00000384580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1423,556,007 - 23,559,574 (+)Ensembl
RefSeq Acc Id: ENST00000554789   ⟹   ENSP00000450459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1423,556,294 - 23,559,543 (+)Ensembl
RefSeq Acc Id: ENST00000554970   ⟹   ENSP00000452465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1423,556,271 - 23,558,898 (+)Ensembl
RefSeq Acc Id: ENST00000555446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1423,555,988 - 23,558,909 (+)Ensembl
RefSeq Acc Id: ENST00000556015   ⟹   ENSP00000451835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1423,556,271 - 23,558,859 (+)Ensembl
RefSeq Acc Id: ENST00000556545   ⟹   ENSP00000452164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1423,556,999 - 23,558,997 (+)Ensembl
RefSeq Acc Id: ENST00000557630   ⟹   ENSP00000452281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1423,556,136 - 23,557,125 (+)Ensembl
RefSeq Acc Id: NM_001126339   ⟹   NP_001119811
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,555,982 - 23,559,581 (+)NCBI
GRCh371423,980,969 - 24,028,790 (+)NCBI
Celera143,887,868 - 3,891,457 (+)RGD
HuRef144,097,332 - 4,145,309 (+)NCBI
CHM1_11424,023,851 - 24,027,450 (+)NCBI
T2T-CHM13v2.01417,756,541 - 17,760,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256062   ⟹   NP_001242991
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,555,982 - 23,559,581 (+)NCBI
GRCh371423,980,969 - 24,028,790 (+)NCBI
HuRef144,097,332 - 4,145,309 (+)NCBI
CHM1_11424,023,851 - 24,027,450 (+)NCBI
T2T-CHM13v2.01417,756,541 - 17,760,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256321   ⟹   NP_001243250
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,555,982 - 23,559,581 (+)NCBI
GRCh371423,980,969 - 24,028,790 (+)NCBI
HuRef144,097,332 - 4,145,309 (+)NCBI
CHM1_11424,023,851 - 24,027,450 (+)NCBI
T2T-CHM13v2.01417,756,541 - 17,760,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256322   ⟹   NP_001243251
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,555,982 - 23,559,581 (+)NCBI
GRCh371423,980,969 - 24,028,790 (+)NCBI
HuRef144,097,332 - 4,145,309 (+)NCBI
CHM1_11424,023,851 - 24,027,450 (+)NCBI
T2T-CHM13v2.01417,756,541 - 17,760,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256323   ⟹   NP_001243252
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,555,982 - 23,559,581 (+)NCBI
GRCh371423,980,969 - 24,028,790 (+)NCBI
HuRef144,097,332 - 4,145,309 (+)NCBI
CHM1_11424,023,851 - 24,027,450 (+)NCBI
T2T-CHM13v2.01417,756,541 - 17,760,140 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024328   ⟹   NP_077304
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,556,271 - 23,560,271 (+)NCBI
GRCh371423,980,969 - 24,028,790 (+)NCBI
Build 361423,095,071 - 23,098,592 (+)NCBI Archive
Celera143,887,868 - 3,891,457 (+)RGD
HuRef144,097,332 - 4,145,309 (+)NCBI
CHM1_11424,023,851 - 24,027,450 (+)NCBI
T2T-CHM13v2.01417,756,830 - 17,760,830 (+)NCBI
Sequence:
RefSeq Acc Id: NR_023314
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,555,982 - 23,559,581 (+)NCBI
GRCh371423,980,969 - 24,028,790 (+)NCBI
Celera143,887,868 - 3,891,457 (+)RGD
HuRef144,097,332 - 4,145,309 (+)NCBI
CHM1_11424,023,851 - 24,027,450 (+)NCBI
T2T-CHM13v2.01417,756,541 - 17,760,140 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046051
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,511,760 - 23,559,581 (+)NCBI
GRCh371423,980,969 - 24,028,790 (+)NCBI
HuRef144,097,332 - 4,145,309 (+)NCBI
CHM1_11423,979,628 - 24,027,450 (+)NCBI
T2T-CHM13v2.01417,712,320 - 17,760,140 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046052
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,512,810 - 23,559,581 (+)NCBI
GRCh371423,980,969 - 24,028,790 (+)NCBI
HuRef144,097,332 - 4,145,309 (+)NCBI
CHM1_11423,980,678 - 24,027,450 (+)NCBI
T2T-CHM13v2.01417,713,370 - 17,760,140 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_077304   ⟸   NM_024328
- Peptide Label: isoform 1
- UniProtKB: D3DS50 (UniProtKB/Swiss-Prot),   G3V4J3 (UniProtKB/Swiss-Prot),   Q9BU02 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001119811   ⟸   NM_001126339
- Peptide Label: isoform 1
- UniProtKB: D3DS50 (UniProtKB/Swiss-Prot),   G3V4J3 (UniProtKB/Swiss-Prot),   Q9BU02 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001242991   ⟸   NM_001256062
- Peptide Label: isoform 2
- UniProtKB: Q9BU02 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243251   ⟸   NM_001256322
- Peptide Label: isoform 3
- UniProtKB: G3V5Q5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243250   ⟸   NM_001256321
- Peptide Label: isoform 2
- UniProtKB: Q9BU02 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243252   ⟸   NM_001256323
- Peptide Label: isoform 3
- UniProtKB: G3V5Q5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000451835   ⟸   ENST00000556015
RefSeq Acc Id: ENSP00000452164   ⟸   ENST00000556545
RefSeq Acc Id: ENSP00000452281   ⟸   ENST00000557630
RefSeq Acc Id: ENSP00000384580   ⟸   ENST00000404535
RefSeq Acc Id: ENSP00000288014   ⟸   ENST00000288014
RefSeq Acc Id: ENSP00000452465   ⟸   ENST00000554970
RefSeq Acc Id: ENSP00000450459   ⟸   ENST00000554789
Protein Domains
CYTH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BU02-F1-model_v2 AlphaFold Q9BU02 1-230 view protein structure

Promoters
RGD ID:6791950
Promoter ID:HG_KWN:19036
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_024328,   NR_023314,   UC001WKH.2,   UC001WKI.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361423,095,061 - 23,096,082 (+)MPROMDB
RGD ID:7227179
Promoter ID:EPDNEW_H19335
Type:initiation region
Name:THTPA_1
Description:thiamine triphosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19336  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,556,042 - 23,556,102EPDNEW
RGD ID:7227181
Promoter ID:EPDNEW_H19336
Type:initiation region
Name:THTPA_2
Description:thiamine triphosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19335  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381423,556,271 - 23,556,331EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18987 AgrOrtholog
COSMIC THTPA COSMIC
Ensembl Genes ENSG00000259431 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000288014 ENTREZGENE
  ENST00000288014.7 UniProtKB/Swiss-Prot
  ENST00000404535 ENTREZGENE
  ENST00000404535.3 UniProtKB/Swiss-Prot
  ENST00000554789 ENTREZGENE
  ENST00000554789.1 UniProtKB/Swiss-Prot
  ENST00000554970 ENTREZGENE
  ENST00000554970.1 UniProtKB/TrEMBL
  ENST00000556015 ENTREZGENE
  ENST00000556015.5 UniProtKB/Swiss-Prot
  ENST00000556545.1 UniProtKB/TrEMBL
  ENST00000557630.1 UniProtKB/TrEMBL
Gene3D-CATH Hypothetical Protein Pfu-838710-001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000259431 GTEx
HGNC ID HGNC:18987 ENTREZGENE
Human Proteome Map THTPA Human Proteome Map
InterPro CYTH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THTPA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThTPase_euk UniProtKB/Swiss-Prot
KEGG Report hsa:79178 UniProtKB/Swiss-Prot
NCBI Gene 79178 ENTREZGENE
OMIM 611612 OMIM
PANTHER PTHR14586 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIAMINE-TRIPHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CYTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38774 PharmGKB
PIRSF ThTPase UniProtKB/Swiss-Prot
PROSITE CYTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYTH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55154 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DS50 ENTREZGENE
  G3V4J3 ENTREZGENE
  G3V5B9_HUMAN UniProtKB/TrEMBL
  G3V5Q5 ENTREZGENE, UniProtKB/TrEMBL
  H0YJU8_HUMAN UniProtKB/TrEMBL
  Q9BU02 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DS50 UniProtKB/Swiss-Prot
  G3V4J3 UniProtKB/Swiss-Prot