TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) - Rat Genome Database

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Gene: TAFAZZIN (tafazzin, phospholipid-lysophospholipid transacylase) Homo sapiens
Analyze
Symbol: TAFAZZIN
Name: tafazzin, phospholipid-lysophospholipid transacylase
RGD ID: 1351979
HGNC Page HGNC
Description: Exhibits 1-acylglycerophosphocholine O-acyltransferase activity. Involved in several processes, including cardiolipin biosynthetic process; mitochondrion organization; and striated muscle tissue development. Localizes to mitochondrion. Implicated in Barth syndrome and dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BTHS; CMD3A; EFE; EFE2; FLJ27390; G4.5; LVNCX; TAZ; Taz1; transcriptional coactivator with PDZ-binding motif; XAP-2
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
NCBI Annotation Information: Note: TAZ (GeneID 6901) and WWTR1 (GeneID 25937) loci share the TAZ symbol/alias in common. TAZ is a widely used alternative name for the transcriptional coactivator with PDZ-binding motif (WWTR1) conflicting with the official symbol for tafazzin (TAZ). [19 Jun 2012]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,411,524 - 154,421,726 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,411,539 - 154,421,726 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,639,875 - 153,650,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,293,071 - 153,303,259 (+)NCBINCBI36hg18NCBI36
Build 34X153,160,723 - 153,170,908NCBI
CeleraX153,800,935 - 153,811,119 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,217,267 - 142,227,597 (+)NCBIHuRef
CHM1_1X153,551,502 - 153,561,710 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:5455540   PMID:7616547   PMID:8042670   PMID:8248200   PMID:8281148   PMID:8630491   PMID:8889548   PMID:9332651   PMID:9382096   PMID:9382097   PMID:10407787   PMID:10484795  
PMID:11076863   PMID:11118295   PMID:11238270   PMID:12032589   PMID:12477932   PMID:12930833   PMID:15098233   PMID:15304507   PMID:15489336   PMID:15499385   PMID:15793838   PMID:16020776  
PMID:16169070   PMID:16344560   PMID:16381901   PMID:16857210   PMID:16873891   PMID:17043667   PMID:18029348   PMID:18799610   PMID:19261493   PMID:19619503   PMID:19700766   PMID:20301486  
PMID:20474083   PMID:20858893   PMID:21873635   PMID:22078877   PMID:22658674   PMID:22692215   PMID:23031367   PMID:23200781   PMID:23345479   PMID:23359024   PMID:23409742   PMID:23432031  
PMID:23523468   PMID:24093814   PMID:24107629   PMID:24342716   PMID:24858921   PMID:25247053   PMID:25299040   PMID:25776009   PMID:25782672   PMID:25919711   PMID:26164234   PMID:26186194  
PMID:26845103   PMID:26853223   PMID:26871637   PMID:26908608   PMID:28183324   PMID:28346439   PMID:28489874   PMID:28514442   PMID:29129703   PMID:29508483   PMID:29514840   PMID:30008435  
PMID:30021884   PMID:30033366   PMID:30122738   PMID:30226969   PMID:30251684   PMID:30332638   PMID:31056533   PMID:31209945   PMID:31559736   PMID:31562256   PMID:31594864   PMID:31598953  
PMID:31638828   PMID:31729175   PMID:31771093   PMID:31801083   PMID:32234310   PMID:32694731   PMID:32898567   PMID:33031893   PMID:33096711   PMID:33731717  


Genomics

Comparative Map Data
TAFAZZIN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,411,524 - 154,421,726 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,411,539 - 154,421,726 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,639,875 - 153,650,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,293,071 - 153,303,259 (+)NCBINCBI36hg18NCBI36
Build 34X153,160,723 - 153,170,908NCBI
CeleraX153,800,935 - 153,811,119 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,217,267 - 142,227,597 (+)NCBIHuRef
CHM1_1X153,551,502 - 153,561,710 (+)NCBICHM1_1
Taz
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,325,498 - 73,340,182 (+)NCBIGRCm39mm39
GRCm39 EnsemblX73,325,518 - 73,333,757 (+)Ensembl
GRCm38X74,281,900 - 74,295,319 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,281,912 - 74,290,151 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,528,036 - 71,535,490 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X70,535,482 - 70,542,868 (+)NCBImm8
CeleraX65,536,488 - 65,543,942 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.95NCBI
Tafazzin
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X152,065,539 - 152,076,178 (+)NCBI
Rnor_6.0 EnsemblX156,421,009 - 156,428,593 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,421,006 - 156,429,461 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,161,153 - 152,169,569 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,319,389 - 160,326,974 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1135,822,755 - 135,830,340 (-)NCBICelera
Cytogenetic MapXq37NCBI
Tafazzin
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580915,188 - 922,791 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580915,668 - 921,703 (+)NCBIChiLan1.0ChiLan1.0
TAFAZZIN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,725,299 - 153,734,046 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,725,294 - 153,734,046 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,853,054 - 143,863,491 (+)NCBIMhudiblu_PPA_v0panPan3
TAFAZZIN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,111,608 - 122,125,714 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,111,434 - 122,125,506 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,253,464 - 125,267,405 (+)NCBI
UMICH_Zoey_3.1X121,022,538 - 121,036,427 (+)NCBI
UNSW_CanFamBas_1.0X123,537,418 - 123,551,342 (+)NCBI
UU_Cfam_GSD_1.0X123,299,313 - 123,313,250 (+)NCBI
Tafazzin
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,422,492 - 119,431,185 (+)NCBI
SpeTri2.0NW_0049368091,160,265 - 1,168,956 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAFAZZIN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,940,031 - 124,947,241 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,940,036 - 124,946,275 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TAFAZZIN
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606566,638,292 - 66,648,540 (+)NCBI
Tafazzin
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946871,618 - 885,331 (+)NCBI

Position Markers
SGC32232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,909 - 153,650,059UniSTSGRCh37
Build 36X153,303,103 - 153,303,253RGDNCBI36
CeleraX153,810,963 - 153,811,113RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,441 - 142,227,591UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
Whitehead-RH MapX323.1UniSTS
DXS7068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,860 - 153,644,953UniSTSGRCh37
Build 36X153,298,054 - 153,298,147RGDNCBI36
CeleraX153,805,914 - 153,806,007RGD
Cytogenetic MapXq28UniSTS
GDB:548776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,022 - 153,640,441UniSTSGRCh37
Build 36X153,293,216 - 153,293,635RGDNCBI36
CeleraX153,801,080 - 153,801,498RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,412 - 142,217,830UniSTS
G65814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,676 - 153,647,612UniSTSGRCh37
Build 36X153,299,870 - 153,300,806RGDNCBI36
CeleraX153,807,730 - 153,808,666RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,208 - 142,225,144UniSTS
G65811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,963 - 153,645,901UniSTSGRCh37
Build 36X153,298,157 - 153,299,095RGDNCBI36
CeleraX153,806,017 - 153,806,955RGD
Cytogenetic MapXq28UniSTS
HuRefX142,222,495 - 142,223,433UniSTS
ECD01292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,425 - 153,642,294UniSTSGRCh37
Build 36X153,294,619 - 153,295,488RGDNCBI36
CeleraX153,802,482 - 153,803,351RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,815 - 142,219,683UniSTS
ECD03579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,390 - 153,650,180UniSTSGRCh37
Build 36X153,302,584 - 153,303,374RGDNCBI36
CeleraX153,810,444 - 153,811,234RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,922 - 142,227,712UniSTS
ECD04044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,540 - 153,649,316UniSTSGRCh37
Build 36X153,301,734 - 153,302,510RGDNCBI36
CeleraX153,809,594 - 153,810,370RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,072 - 142,226,848UniSTS
ECD05101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,924 - 153,647,669UniSTSGRCh37
Build 36X153,300,118 - 153,300,863RGDNCBI36
CeleraX153,807,978 - 153,808,723RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,456 - 142,225,201UniSTS
ECD06610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,717 - 153,646,421UniSTSGRCh37
Build 36X153,298,911 - 153,299,615RGDNCBI36
CeleraX153,806,771 - 153,807,475RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,249 - 142,223,953UniSTS
ECD07224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,446 - 153,641,133UniSTSGRCh37
Build 36X153,293,640 - 153,294,327RGDNCBI36
CeleraX153,801,503 - 153,802,190RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,835 - 142,218,522UniSTS
ECD07887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,747 - 153,648,416UniSTSGRCh37
Build 36X153,300,941 - 153,301,610RGDNCBI36
CeleraX153,808,801 - 153,809,470RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,279 - 142,225,948UniSTS
ECD17423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,029 - 153,640,429UniSTSGRCh37
Build 36X153,293,223 - 153,293,623RGDNCBI36
CeleraX153,801,087 - 153,801,486RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,419 - 142,217,818UniSTS
ECD20550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,457 - 153,646,737UniSTSGRCh37
Build 36X153,299,651 - 153,299,931RGDNCBI36
CeleraX153,807,511 - 153,807,791RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,989 - 142,224,269UniSTS
REN89462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,637,883 - 153,638,111UniSTSGRCh37
Build 36X153,291,077 - 153,291,305RGDNCBI36
CeleraX153,798,943 - 153,799,171RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,274 - 142,215,501UniSTS
REN89463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,638,063 - 153,638,303UniSTSGRCh37
Build 36X153,291,257 - 153,291,497RGDNCBI36
CeleraX153,799,123 - 153,799,363RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,453 - 142,215,693UniSTS
REN89464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,638,178 - 153,638,415UniSTSGRCh37
Build 36X153,291,372 - 153,291,609RGDNCBI36
CeleraX153,799,238 - 153,799,475RGD
Cytogenetic MapXq28UniSTS
HuRefX142,215,568 - 142,215,805UniSTS
REN89465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,278 - 153,639,504UniSTSGRCh37
Build 36X153,292,472 - 153,292,698RGDNCBI36
CeleraX153,800,337 - 153,800,563RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,668 - 142,216,894UniSTS
REN89466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,312 - 153,639,573UniSTSGRCh37
Build 36X153,292,506 - 153,292,767RGDNCBI36
CeleraX153,800,371 - 153,800,632RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,702 - 142,216,963UniSTS
REN89467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,639,514 - 153,639,739UniSTSGRCh37
Build 36X153,292,708 - 153,292,933RGDNCBI36
CeleraX153,800,573 - 153,800,798RGD
Cytogenetic MapXq28UniSTS
HuRefX142,216,904 - 142,217,129UniSTS
REN89468  
Human AssemblyChrPosition (strand)SourceJBrowse
CeleraX153,800,766 - 153,801,030RGD
Cytogenetic MapXq28UniSTS
REN89469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,030 - 153,640,292UniSTSGRCh37
Build 36X153,293,224 - 153,293,486RGDNCBI36
CeleraX153,801,088 - 153,801,349RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,420 - 142,217,681UniSTS
REN89470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,274 - 153,640,531UniSTSGRCh37
Build 36X153,293,468 - 153,293,725RGDNCBI36
CeleraX153,801,331 - 153,801,588RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,663 - 142,217,920UniSTS
REN89471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,529 - 153,640,774UniSTSGRCh37
Build 36X153,293,723 - 153,293,968RGDNCBI36
CeleraX153,801,586 - 153,801,831RGD
Cytogenetic MapXq28UniSTS
HuRefX142,217,918 - 142,218,163UniSTS
REN89472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,722 - 153,640,983UniSTSGRCh37
Build 36X153,293,916 - 153,294,177RGDNCBI36
CeleraX153,801,779 - 153,802,040RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,111 - 142,218,372UniSTS
REN89473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,960 - 153,641,209UniSTSGRCh37
Build 36X153,294,154 - 153,294,403RGDNCBI36
CeleraX153,802,017 - 153,802,266RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,349 - 142,218,598UniSTS
REN89474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,185 - 153,641,429UniSTSGRCh37
Build 36X153,294,379 - 153,294,623RGDNCBI36
CeleraX153,802,242 - 153,802,486RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,574 - 142,218,819UniSTS
REN89475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,399 - 153,641,650UniSTSGRCh37
Build 36X153,294,593 - 153,294,844RGDNCBI36
CeleraX153,802,456 - 153,802,707RGD
Cytogenetic MapXq28UniSTS
HuRefX142,218,789 - 142,219,039UniSTS
REN89476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,648 - 153,641,879UniSTSGRCh37
Build 36X153,294,842 - 153,295,073RGDNCBI36
CeleraX153,802,705 - 153,802,936RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,037 - 142,219,268UniSTS
REN89477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,849 - 153,642,098UniSTSGRCh37
Build 36X153,295,043 - 153,295,292RGDNCBI36
CeleraX153,802,906 - 153,803,155RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,238 - 142,219,487UniSTS
REN89478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,076 - 153,642,341UniSTSGRCh37
Build 36X153,295,270 - 153,295,535RGDNCBI36
CeleraX153,803,133 - 153,803,398RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,465 - 142,219,730UniSTS
REN89479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,340 - 153,642,592UniSTSGRCh37
Build 36X153,295,534 - 153,295,786RGDNCBI36
CeleraX153,803,397 - 153,803,649RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,729 - 142,219,981UniSTS
REN89480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,528 - 153,642,753UniSTSGRCh37
Build 36X153,295,722 - 153,295,947RGDNCBI36
CeleraX153,803,585 - 153,803,810RGD
Cytogenetic MapXq28UniSTS
HuRefX142,219,917 - 142,220,142UniSTS
REN89481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,222 - 153,643,477UniSTSGRCh37
Build 36X153,296,416 - 153,296,671RGDNCBI36
CeleraX153,804,278 - 153,804,533RGD
Cytogenetic MapXq28UniSTS
HuRefX142,220,610 - 142,220,865UniSTS
REN89482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,378 - 153,643,633UniSTSGRCh37
Build 36X153,296,572 - 153,296,827RGDNCBI36
CeleraX153,804,434 - 153,804,689RGD
Cytogenetic MapXq28UniSTS
HuRefX142,220,766 - 142,221,021UniSTS
REN89483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,602 - 153,643,849UniSTSGRCh37
Build 36X153,296,796 - 153,297,043RGDNCBI36
CeleraX153,804,658 - 153,804,906RGD
Cytogenetic MapXq28UniSTS
HuRefX142,220,990 - 142,221,238UniSTS
REN89484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,643,826 - 153,644,055UniSTSGRCh37
Build 36X153,297,020 - 153,297,249RGDNCBI36
CeleraX153,804,883 - 153,805,112RGD
Cytogenetic MapXq28UniSTS
HuRefX142,221,215 - 142,221,444UniSTS
REN89485  
Human AssemblyChrPosition (strand)SourceJBrowse
CeleraX153,805,139 - 153,805,372RGD
Cytogenetic MapXq28UniSTS
HuRefX142,221,472 - 142,221,705UniSTS
REN89486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,786 - 153,645,014UniSTSGRCh37
Build 36X153,297,980 - 153,298,208RGDNCBI36
CeleraX153,805,840 - 153,806,068RGD
Cytogenetic MapXq28UniSTS
REN89487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,966 - 153,645,193UniSTSGRCh37
Build 36X153,298,160 - 153,298,387RGDNCBI36
CeleraX153,806,020 - 153,806,247RGD
Cytogenetic MapXq28UniSTS
HuRefX142,222,498 - 142,222,725UniSTS
REN89488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,501 - 153,645,725UniSTSGRCh37
Build 36X153,298,695 - 153,298,919RGDNCBI36
CeleraX153,806,555 - 153,806,779RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,033 - 142,223,257UniSTS
REN89489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,723 - 153,645,971UniSTSGRCh37
Build 36X153,298,917 - 153,299,165RGDNCBI36
CeleraX153,806,777 - 153,807,025RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,255 - 142,223,503UniSTS
REN89490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,965 - 153,646,230UniSTSGRCh37
Build 36X153,299,159 - 153,299,424RGDNCBI36
CeleraX153,807,019 - 153,807,284RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,497 - 142,223,762UniSTS
REN89491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,205 - 153,646,466UniSTSGRCh37
Build 36X153,299,399 - 153,299,660RGDNCBI36
CeleraX153,807,259 - 153,807,520RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,737 - 142,223,998UniSTS
REN89492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,443 - 153,646,693UniSTSGRCh37
Build 36X153,299,637 - 153,299,887RGDNCBI36
CeleraX153,807,497 - 153,807,747RGD
Cytogenetic MapXq28UniSTS
HuRefX142,223,975 - 142,224,225UniSTS
REN89493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,669 - 153,646,893UniSTSGRCh37
Build 36X153,299,863 - 153,300,087RGDNCBI36
CeleraX153,807,723 - 153,807,947RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,201 - 142,224,425UniSTS
REN89494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,839 - 153,647,101UniSTSGRCh37
Build 36X153,300,033 - 153,300,295RGDNCBI36
CeleraX153,807,893 - 153,808,155RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,371 - 142,224,633UniSTS
REN89495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,100 - 153,647,350UniSTSGRCh37
Build 36X153,300,294 - 153,300,544RGDNCBI36
CeleraX153,808,154 - 153,808,404RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,632 - 142,224,882UniSTS
REN89496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,327 - 153,647,580UniSTSGRCh37
Build 36X153,300,521 - 153,300,774RGDNCBI36
CeleraX153,808,381 - 153,808,634RGD
Cytogenetic MapXq28UniSTS
HuRefX142,224,859 - 142,225,112UniSTS
REN89497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,557 - 153,647,813UniSTSGRCh37
Build 36X153,300,751 - 153,301,007RGDNCBI36
CeleraX153,808,611 - 153,808,867RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,089 - 142,225,345UniSTS
REN89498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,647,799 - 153,648,062UniSTSGRCh37
Build 36X153,300,993 - 153,301,256RGDNCBI36
CeleraX153,808,853 - 153,809,116RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,331 - 142,225,594UniSTS
REN89499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,041 - 153,648,287UniSTSGRCh37
Build 36X153,301,235 - 153,301,481RGDNCBI36
CeleraX153,809,095 - 153,809,341RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,573 - 142,225,819UniSTS
REN89500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,262 - 153,648,503UniSTSGRCh37
Build 36X153,301,456 - 153,301,697RGDNCBI36
CeleraX153,809,316 - 153,809,557RGD
Cytogenetic MapXq28UniSTS
HuRefX142,225,794 - 142,226,035UniSTS
REN89501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,480 - 153,648,729UniSTSGRCh37
Build 36X153,301,674 - 153,301,923RGDNCBI36
CeleraX153,809,534 - 153,809,783RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,012 - 142,226,261UniSTS
REN89502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,722 - 153,648,968UniSTSGRCh37
Build 36X153,301,916 - 153,302,162RGDNCBI36
CeleraX153,809,776 - 153,810,022RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,254 - 142,226,500UniSTS
REN89503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,849 - 153,649,083UniSTSGRCh37
Build 36X153,302,043 - 153,302,277RGDNCBI36
CeleraX153,809,903 - 153,810,137RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,381 - 142,226,615UniSTS
REN89504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,060 - 153,649,300UniSTSGRCh37
Build 36X153,302,254 - 153,302,494RGDNCBI36
CeleraX153,810,114 - 153,810,354RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,592 - 142,226,832UniSTS
REN89505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,291 - 153,649,528UniSTSGRCh37
Build 36X153,302,485 - 153,302,722RGDNCBI36
CeleraX153,810,345 - 153,810,582RGD
Cytogenetic MapXq28UniSTS
HuRefX142,226,823 - 142,227,060UniSTS
REN89506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,501 - 153,649,763UniSTSGRCh37
Build 36X153,302,695 - 153,302,957RGDNCBI36
CeleraX153,810,555 - 153,810,817RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,033 - 142,227,295UniSTS
REN89507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,753 - 153,649,998UniSTSGRCh37
Build 36X153,302,947 - 153,303,192RGDNCBI36
CeleraX153,810,807 - 153,811,052RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,285 - 142,227,530UniSTS
REN89508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,975 - 153,650,237UniSTSGRCh37
Build 36X153,303,169 - 153,303,431RGDNCBI36
CeleraX153,811,029 - 153,811,291RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,507 - 142,227,769UniSTS
REN89509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,650,217 - 153,650,464UniSTSGRCh37
Build 36X153,303,411 - 153,303,658RGDNCBI36
CeleraX153,811,271 - 153,811,518RGD
Cytogenetic MapXq28UniSTS
stSG604031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,640,269 - 153,641,444UniSTSGRCh37
Build 36X153,293,463 - 153,294,638RGDNCBI36
CeleraX153,801,326 - 153,802,501RGD
HuRefX142,217,658 - 142,218,834UniSTS
stSG604032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,641,443 - 153,642,453UniSTSGRCh37
Build 36X153,294,637 - 153,295,647RGDNCBI36
CeleraX153,802,500 - 153,803,510RGD
stSG604033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,642,452 - 153,643,846UniSTSGRCh37
Build 36X153,295,646 - 153,297,040RGDNCBI36
CeleraX153,803,509 - 153,804,903RGD
HuRefX142,219,841 - 142,221,235UniSTS
stSG604034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,644,260 - 153,645,736UniSTSGRCh37
Build 36X153,297,454 - 153,298,930RGDNCBI36
CeleraX153,805,314 - 153,806,790RGD
HuRefX142,221,647 - 142,223,268UniSTS
stSG604035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,732 - 153,646,891UniSTSGRCh37
Build 36X153,298,926 - 153,300,085RGDNCBI36
CeleraX153,806,786 - 153,807,945RGD
HuRefX142,223,264 - 142,224,423UniSTS
stSG604036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,646,872 - 153,648,105UniSTSGRCh37
Build 36X153,300,066 - 153,301,299RGDNCBI36
CeleraX153,807,926 - 153,809,159RGD
HuRefX142,224,404 - 142,225,637UniSTS
stSG604037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,648,086 - 153,649,572UniSTSGRCh37
Build 36X153,301,280 - 153,302,766RGDNCBI36
CeleraX153,809,140 - 153,810,626RGD
HuRefX142,225,618 - 142,227,104UniSTS
TAZ__5218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,435 - 153,650,228UniSTSGRCh37
Build 36X153,302,629 - 153,303,422RGDNCBI36
CeleraX153,810,489 - 153,811,282RGD
HuRefX142,226,967 - 142,227,760UniSTS
DXS7010E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,649,749 - 153,649,900UniSTSGRCh37
Build 36X153,302,943 - 153,303,094RGDNCBI36
CeleraX153,810,803 - 153,810,954RGD
Cytogenetic MapXq28UniSTS
HuRefX142,227,281 - 142,227,432UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
G54832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,645,945 - 153,646,878UniSTSGRCh37
CeleraX153,806,999 - 153,807,932UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,223,477 - 142,224,410UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:12733
Count of miRNA genes:1346
Interacting mature miRNAs:1790
Transcripts:ENST00000299328, ENST00000350743, ENST00000351413, ENST00000369776, ENST00000369790, ENST00000369793, ENST00000426231, ENST00000426834, ENST00000433313, ENST00000439735, ENST00000445994, ENST00000454722, ENST00000455296, ENST00000465540, ENST00000470127, ENST00000475699, ENST00000476307, ENST00000476679, ENST00000476800, ENST00000479875, ENST00000480812, ENST00000483674, ENST00000483780, ENST00000494912, ENST00000498029
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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
Medium 2397 2911 1590 508 1901 350 4293 2114 3406 309 1322 1566 170 1204 2764 3
Low 35 73 133 114 47 114 62 79 302 109 126 42 24 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_024048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC244090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL531401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY231461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY231462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY231463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY231464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY258039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI822925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX401320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX936347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA488175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN478633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB192394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ884408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP123427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369776   ⟹   ENSP00000358791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,759 - 154,421,726 (+)Ensembl
RefSeq Acc Id: ENST00000426231   ⟹   ENSP00000406257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,412,161 - 154,420,992 (+)Ensembl
RefSeq Acc Id: ENST00000439735   ⟹   ENSP00000398193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,830 - 154,420,094 (+)Ensembl
RefSeq Acc Id: ENST00000470127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,412,920 - 154,421,705 (+)Ensembl
RefSeq Acc Id: ENST00000475699   ⟹   ENSP00000419854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,553 - 154,421,502 (+)Ensembl
RefSeq Acc Id: ENST00000476679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,412,715 - 154,419,952 (+)Ensembl
RefSeq Acc Id: ENST00000476800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,879 - 154,414,673 (+)Ensembl
RefSeq Acc Id: ENST00000479875   ⟹   ENSP00000498940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,412,721 - 154,413,567 (+)Ensembl
RefSeq Acc Id: ENST00000483674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,412,086 - 154,421,726 (+)Ensembl
RefSeq Acc Id: ENST00000483780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,412,203 - 154,419,786 (+)Ensembl
RefSeq Acc Id: ENST00000494912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,418,475 - 154,421,722 (+)Ensembl
RefSeq Acc Id: ENST00000498029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,419,991 - 154,421,324 (+)Ensembl
RefSeq Acc Id: ENST00000601016   ⟹   ENSP00000469981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,539 - 154,421,726 (+)Ensembl
RefSeq Acc Id: ENST00000612012   ⟹   ENSP00000482070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,650 - 154,421,203 (+)Ensembl
RefSeq Acc Id: ENST00000612460   ⟹   ENSP00000481037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,539 - 154,421,700 (+)Ensembl
RefSeq Acc Id: ENST00000613002   ⟹   ENSP00000478154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,541 - 154,421,439 (+)Ensembl
RefSeq Acc Id: ENST00000613634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,524 - 154,420,042 (+)Ensembl
RefSeq Acc Id: ENST00000614595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,619 - 154,421,046 (+)Ensembl
RefSeq Acc Id: ENST00000615658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,585 - 154,421,473 (+)Ensembl
RefSeq Acc Id: ENST00000615986   ⟹   ENSP00000480133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,561 - 154,421,726 (+)Ensembl
RefSeq Acc Id: ENST00000616020   ⟹   ENSP00000483636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,844 - 154,421,004 (+)Ensembl
RefSeq Acc Id: ENST00000617701   ⟹   ENSP00000481645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,562 - 154,421,700 (+)Ensembl
RefSeq Acc Id: ENST00000620808   ⟹   ENSP00000479311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,574 - 154,420,077 (+)Ensembl
RefSeq Acc Id: ENST00000621647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,791 - 154,414,564 (+)Ensembl
RefSeq Acc Id: ENST00000651139   ⟹   ENSP00000498957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,420,325 - 154,421,726 (+)Ensembl
RefSeq Acc Id: ENST00000652354   ⟹   ENSP00000498734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,412,718 - 154,421,726 (+)Ensembl
RefSeq Acc Id: ENST00000652358   ⟹   ENSP00000498464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,898 - 154,421,053 (+)Ensembl
RefSeq Acc Id: ENST00000652390   ⟹   ENSP00000498858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,979 - 154,421,308 (+)Ensembl
RefSeq Acc Id: ENST00000652476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,683 - 154,421,706 (+)Ensembl
RefSeq Acc Id: ENST00000652644   ⟹   ENSP00000498496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,413,552 - 154,421,492 (+)Ensembl
RefSeq Acc Id: ENST00000652682   ⟹   ENSP00000498288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,550 - 154,421,706 (+)Ensembl
RefSeq Acc Id: ENST00000652685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,411,792 - 154,421,700 (+)Ensembl
RefSeq Acc Id: NM_000116   ⟹   NP_000107
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,539 - 154,421,726 (+)NCBI
GRCh37X153,639,877 - 153,650,065 (+)ENTREZGENE
Build 36X153,293,071 - 153,303,259 (+)NCBI Archive
HuRefX142,217,267 - 142,227,597 (+)ENTREZGENE
CHM1_1X153,551,502 - 153,561,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303465   ⟹   NP_001290394
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,539 - 154,421,726 (+)NCBI
CHM1_1X153,551,502 - 153,561,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181311   ⟹   NP_851828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,539 - 154,421,726 (+)NCBI
GRCh37X153,639,877 - 153,650,065 (+)ENTREZGENE
Build 36X153,293,071 - 153,303,259 (+)NCBI Archive
HuRefX142,217,267 - 142,227,597 (+)ENTREZGENE
CHM1_1X153,551,502 - 153,561,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181312   ⟹   NP_851829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,539 - 154,421,726 (+)NCBI
GRCh37X153,639,877 - 153,650,065 (+)ENTREZGENE
Build 36X153,293,071 - 153,303,259 (+)NCBI Archive
HuRefX142,217,267 - 142,227,597 (+)ENTREZGENE
CHM1_1X153,551,502 - 153,561,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181313   ⟹   NP_851830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,539 - 154,421,726 (+)NCBI
GRCh37X153,639,877 - 153,650,065 (+)ENTREZGENE
Build 36X153,293,071 - 153,303,259 (+)NCBI Archive
HuRefX142,217,267 - 142,227,597 (+)ENTREZGENE
CHM1_1X153,551,502 - 153,561,710 (+)NCBI
Sequence:
RefSeq Acc Id: NR_024048
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,539 - 154,421,726 (+)NCBI
GRCh37X153,639,877 - 153,650,065 (+)ENTREZGENE
HuRefX142,217,267 - 142,227,597 (+)ENTREZGENE
CHM1_1X153,551,502 - 153,561,710 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724836   ⟹   XP_006724899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,541 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724837   ⟹   XP_006724900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,541 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724839   ⟹   XP_006724902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,541 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724841   ⟹   XP_006724904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,650 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724842   ⟹   XP_006724905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,650 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531189   ⟹   XP_011529491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,541 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531191   ⟹   XP_011529493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,412,221 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029761   ⟹   XP_016885250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,541 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029762   ⟹   XP_016885251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,541 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029763   ⟹   XP_016885252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,541 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029764   ⟹   XP_016885253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,413,232 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029765   ⟹   XP_016885254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,650 - 154,421,726 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452431   ⟹   XP_024308199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,541 - 154,421,726 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000107 (Get FASTA)   NCBI Sequence Viewer  
  NP_001290394 (Get FASTA)   NCBI Sequence Viewer  
  NP_851828 (Get FASTA)   NCBI Sequence Viewer  
  NP_851829 (Get FASTA)   NCBI Sequence Viewer  
  NP_851830 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724899 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724900 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724902 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724904 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724905 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529491 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529493 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885250 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885251 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885252 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885253 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885254 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308199 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAO84335 (Get FASTA)   NCBI Sequence Viewer  
  AAO84336 (Get FASTA)   NCBI Sequence Viewer  
  AAO84337 (Get FASTA)   NCBI Sequence Viewer  
  AAO84338 (Get FASTA)   NCBI Sequence Viewer  
  AAO84339 (Get FASTA)   NCBI Sequence Viewer  
  AAO84340 (Get FASTA)   NCBI Sequence Viewer  
  AAO84341 (Get FASTA)   NCBI Sequence Viewer  
  AAO84342 (Get FASTA)   NCBI Sequence Viewer  
  ABB72780 (Get FASTA)   NCBI Sequence Viewer  
  ABC25731 (Get FASTA)   NCBI Sequence Viewer  
  ABC25736 (Get FASTA)   NCBI Sequence Viewer  
  ABC25741 (Get FASTA)   NCBI Sequence Viewer  
  ABC25746 (Get FASTA)   NCBI Sequence Viewer  
  ABC25751 (Get FASTA)   NCBI Sequence Viewer  
  ABC25756 (Get FASTA)   NCBI Sequence Viewer  
  ABC25760 (Get FASTA)   NCBI Sequence Viewer  
  ABC25765 (Get FASTA)   NCBI Sequence Viewer  
  ABC25770 (Get FASTA)   NCBI Sequence Viewer  
  ABC25775 (Get FASTA)   NCBI Sequence Viewer  
  ABC25780 (Get FASTA)   NCBI Sequence Viewer  
  ABC25785 (Get FASTA)   NCBI Sequence Viewer  
  ABC25790 (Get FASTA)   NCBI Sequence Viewer  
  ABC25795 (Get FASTA)   NCBI Sequence Viewer  
  ABC25800 (Get FASTA)   NCBI Sequence Viewer  
  ABC25805 (Get FASTA)   NCBI Sequence Viewer  
  ABC25810 (Get FASTA)   NCBI Sequence Viewer  
  ABC25815 (Get FASTA)   NCBI Sequence Viewer  
  ABC25820 (Get FASTA)   NCBI Sequence Viewer  
  ABC25825 (Get FASTA)   NCBI Sequence Viewer  
  ABC25830 (Get FASTA)   NCBI Sequence Viewer  
  ABC25835 (Get FASTA)   NCBI Sequence Viewer  
  ABC25840 (Get FASTA)   NCBI Sequence Viewer  
  ABC25845 (Get FASTA)   NCBI Sequence Viewer  
  ABC25850 (Get FASTA)   NCBI Sequence Viewer  
  ABC25855 (Get FASTA)   NCBI Sequence Viewer  
  ABC25860 (Get FASTA)   NCBI Sequence Viewer  
  ABC25865 (Get FASTA)   NCBI Sequence Viewer  
  ABC25870 (Get FASTA)   NCBI Sequence Viewer  
  ABC25875 (Get FASTA)   NCBI Sequence Viewer  
  ABC25880 (Get FASTA)   NCBI Sequence Viewer  
  ABC25885 (Get FASTA)   NCBI Sequence Viewer  
  ABC25890 (Get FASTA)   NCBI Sequence Viewer  
  ABC25895 (Get FASTA)   NCBI Sequence Viewer  
  ABC25900 (Get FASTA)   NCBI Sequence Viewer  
  ABC25905 (Get FASTA)   NCBI Sequence Viewer  
  ABC25910 (Get FASTA)   NCBI Sequence Viewer  
  ABC25915 (Get FASTA)   NCBI Sequence Viewer  
  ABC25920 (Get FASTA)   NCBI Sequence Viewer  
  ABC25925 (Get FASTA)   NCBI Sequence Viewer  
  ABC25930 (Get FASTA)   NCBI Sequence Viewer  
  ABC25935 (Get FASTA)   NCBI Sequence Viewer  
  ABC25940 (Get FASTA)   NCBI Sequence Viewer  
  ABC25945 (Get FASTA)   NCBI Sequence Viewer  
  ABC25950 (Get FASTA)   NCBI Sequence Viewer  
  ABC25955 (Get FASTA)   NCBI Sequence Viewer  
  ABC25960 (Get FASTA)   NCBI Sequence Viewer  
  ABC25965 (Get FASTA)   NCBI Sequence Viewer  
  ABC25970 (Get FASTA)   NCBI Sequence Viewer  
  ABC25975 (Get FASTA)   NCBI Sequence Viewer  
  ABC25980 (Get FASTA)   NCBI Sequence Viewer  
  ABI63375 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33806 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33807 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33808 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33809 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33810 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33811 (Get FASTA)   NCBI Sequence Viewer  
  BAF84537 (Get FASTA)   NCBI Sequence Viewer  
  CAA63418 (Get FASTA)   NCBI Sequence Viewer  
  CAA63419 (Get FASTA)   NCBI Sequence Viewer  
  EAW72717 (Get FASTA)   NCBI Sequence Viewer  
  EAW72718 (Get FASTA)   NCBI Sequence Viewer  
  EAW72719 (Get FASTA)   NCBI Sequence Viewer  
  EAW72720 (Get FASTA)   NCBI Sequence Viewer  
  EAW72721 (Get FASTA)   NCBI Sequence Viewer  
  EAW72722 (Get FASTA)   NCBI Sequence Viewer  
  EAW72723 (Get FASTA)   NCBI Sequence Viewer  
  EAW72724 (Get FASTA)   NCBI Sequence Viewer  
  EAW72725 (Get FASTA)   NCBI Sequence Viewer  
  EAW72726 (Get FASTA)   NCBI Sequence Viewer  
  EAW72727 (Get FASTA)   NCBI Sequence Viewer  
  EAW72728 (Get FASTA)   NCBI Sequence Viewer  
  EAW72729 (Get FASTA)   NCBI Sequence Viewer  
  EAW72730 (Get FASTA)   NCBI Sequence Viewer  
  Q16635 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000107   ⟸   NM_000116
- Peptide Label: isoform 1
- UniProtKB: Q16635 (UniProtKB/Swiss-Prot),   A0A0S2Z4K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_851829   ⟸   NM_181312
- Peptide Label: isoform 3
- UniProtKB: Q16635 (UniProtKB/Swiss-Prot),   A0A0S2Z4K9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_851828   ⟸   NM_181311
- Peptide Label: isoform 2
- UniProtKB: Q16635 (UniProtKB/Swiss-Prot),   A0A0S2Z4E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_851830   ⟸   NM_181313
- Peptide Label: isoform 4
- UniProtKB: Q16635 (UniProtKB/Swiss-Prot),   A0A0S2Z4F4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724899   ⟸   XM_006724836
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006724900   ⟸   XM_006724837
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724902   ⟸   XM_006724839
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006724904   ⟸   XM_006724841
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_006724905   ⟸   XM_006724842
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: NP_001290394   ⟸   NM_001303465
- Peptide Label: isoform 5
- UniProtKB: Q16635 (UniProtKB/Swiss-Prot),   A6XNE1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529491   ⟸   XM_011531189
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011529493   ⟸   XM_011531191
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016885254   ⟸   XM_017029765
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016885251   ⟸   XM_017029762
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885250   ⟸   XM_017029761
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885252   ⟸   XM_017029763
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016885253   ⟸   XM_017029764
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_024308199   ⟸   XM_024452431
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000479311   ⟸   ENST00000620808
RefSeq Acc Id: ENSP00000398193   ⟸   ENST00000439735
RefSeq Acc Id: ENSP00000406257   ⟸   ENST00000426231
RefSeq Acc Id: ENSP00000498940   ⟸   ENST00000479875
RefSeq Acc Id: ENSP00000482070   ⟸   ENST00000612012
RefSeq Acc Id: ENSP00000481037   ⟸   ENST00000612460
RefSeq Acc Id: ENSP00000498957   ⟸   ENST00000651139
RefSeq Acc Id: ENSP00000498288   ⟸   ENST00000652682
RefSeq Acc Id: ENSP00000498496   ⟸   ENST00000652644
RefSeq Acc Id: ENSP00000478154   ⟸   ENST00000613002
RefSeq Acc Id: ENSP00000498734   ⟸   ENST00000652354
RefSeq Acc Id: ENSP00000498464   ⟸   ENST00000652358
RefSeq Acc Id: ENSP00000498858   ⟸   ENST00000652390
RefSeq Acc Id: ENSP00000480133   ⟸   ENST00000615986
RefSeq Acc Id: ENSP00000469981   ⟸   ENST00000601016
RefSeq Acc Id: ENSP00000483636   ⟸   ENST00000616020
RefSeq Acc Id: ENSP00000481645   ⟸   ENST00000617701
RefSeq Acc Id: ENSP00000358791   ⟸   ENST00000369776
RefSeq Acc Id: ENSP00000419854   ⟸   ENST00000475699
Protein Domains
PlsC

Promoters
RGD ID:6808695
Promoter ID:HG_KWN:68648
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000299328,   ENST00000350743,   ENST00000351413,   ENST00000369790,   ENST00000369793,   OTTHUMT00000080942,   OTTHUMT00000080943,   OTTHUMT00000080944,   OTTHUMT00000080946,   OTTHUMT00000080948,   OTTHUMT00000080949,   OTTHUMT00000080950,   OTTHUMT00000080952,   OTTHUMT00000130310,   OTTHUMT00000130311,   OTTHUMT00000130312,   OTTHUMT00000130313,   OTTHUMT00000130314,   OTTHUMT00000130315,   OTTHUMT00000130316,   OTTHUMT00000130317,   OTTHUMT00000130318,   OTTHUMT00000337962,   UC010NUY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,292,891 - 153,294,502 (+)MPROMDB
RGD ID:6809307
Promoter ID:HG_KWN:68650
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080945,   OTTHUMT00000130320
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,300,146 - 153,301,592 (+)MPROMDB
RGD ID:13628612
Promoter ID:EPDNEW_H29544
Type:multiple initiation site
Name:TAZ_2
Description:tafazzin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29545  EPDNEW_H29546  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,409,306 - 154,409,366EPDNEW
RGD ID:13628614
Promoter ID:EPDNEW_H29545
Type:multiple initiation site
Name:TAZ_3
Description:tafazzin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29544  EPDNEW_H29546  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,262 - 154,411,322EPDNEW
RGD ID:13628616
Promoter ID:EPDNEW_H29546
Type:initiation region
Name:TAZ_1
Description:tafazzin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29544  EPDNEW_H29545  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,411,546 - 154,411,606EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000029171]|not provided [RCV000283338] ChrX:154420676 [GRCh38]
ChrX:153649015 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.110-17= single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000030474]|not specified [RCV000245792] ChrX:154412069 [GRCh38]
ChrX:153640406 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_000116.5(TAFAZZIN):c.239-1G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011849] ChrX:154413206 [GRCh38]
ChrX:153641543 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011850]|not provided [RCV001091834] ChrX:154412129 [GRCh38]
ChrX:153640466 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.239-1G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011851] ChrX:154413206 [GRCh38]
ChrX:153641543 [GRCh37]
ChrX:Xq28
pathogenic
TAZ, 1-BP INS, NT868 insertion 3-Methylglutaconic aciduria type 2 [RCV000011852] ChrX:Xq28 pathogenic
TAZ, 1-BP DEL deletion 3-Methylglutaconic aciduria type 2 [RCV000011853] ChrX:Xq28 pathogenic
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011854] ChrX:154420037 [GRCh38]
ChrX:153648376 [GRCh37]
ChrX:Xq28
pathogenic
TAZ, IVS1DS, G-C, +5 single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011855] ChrX:Xq28 pathogenic
NM_000116.5(TAFAZZIN):c.284+110G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011856] ChrX:154413362 [GRCh38]
ChrX:153641699 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011857] ChrX:154413549 [GRCh38]
ChrX:153641886 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.110-2A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011858] ChrX:154412084 [GRCh38]
ChrX:153640421 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011859] ChrX:154413248 [GRCh38]
ChrX:153641585 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) deletion 3-Methylglutaconic aciduria type 2 [RCV000011860] ChrX:154420051..154420054 [GRCh38]
ChrX:153648390..153648393 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.647-1G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000011861] ChrX:154420211 [GRCh38]
ChrX:153648550 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000542068] ChrX:154420726 [GRCh38]
ChrX:153649065 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.109+28C>T single nucleotide variant not specified [RCV000035085] ChrX:154411980 [GRCh38]
ChrX:153640317 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001340612]|not provided [RCV000766522]|not specified [RCV000035086] ChrX:154411856 [GRCh38]
ChrX:153640193 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035087] ChrX:154412184 [GRCh38]
ChrX:153640521 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035088] ChrX:154413525 [GRCh38]
ChrX:153641862 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035089] ChrX:154413504 [GRCh38]
ChrX:153641841 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035090] ChrX:154413507 [GRCh38]
ChrX:153641844 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.371-13C>G single nucleotide variant not specified [RCV000035091] ChrX:154414088 [GRCh38]
ChrX:153642425 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000233298]|Cardiomyopathy, left ventricular noncompaction [RCV000347300]|Cardiovascular phenotype [RCV000245160]|Endocardial fibroelastosis [RCV000339020]|Primary dilated cardiomyopathy [RCV000289824]|not provided [RCV000224909]|not specified [RCV000035092] ChrX:154414113 [GRCh38]
ChrX:153642450 [GRCh37]
ChrX:Xq28
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) single nucleotide variant not specified [RCV000035093] ChrX:154411891 [GRCh38]
ChrX:153640228 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000263467]|Cardiomyopathy, left ventricular noncompaction [RCV000313028]|Endocardial fibroelastosis [RCV000297570]|Primary dilated cardiomyopathy [RCV000356145]|not specified [RCV000035094] ChrX:154419617 [GRCh38]
ChrX:153647956 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.583+10G>A single nucleotide variant not specified [RCV000035095] ChrX:154419756 [GRCh38]
ChrX:153648095 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.584-7T>C single nucleotide variant not specified [RCV000035096] ChrX:154420025 [GRCh38]
ChrX:153648364 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035097] ChrX:154420038 [GRCh38]
ChrX:153648377 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.700-1G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000035098] ChrX:154420657 [GRCh38]
ChrX:153648996 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV000035099] ChrX:154420676 [GRCh38]
ChrX:153649015 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.752G>T (p.Arg251Leu) single nucleotide variant not specified [RCV000035100] ChrX:154420710 [GRCh38]
ChrX:153649049 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.778-24_778-7delinsA indel not specified [RCV000035101] ChrX:154420879..154420896 [GRCh38]
ChrX:153649218..153649235 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) single nucleotide variant Primary dilated cardiomyopathy [RCV000035102] ChrX:154420948 [GRCh38]
ChrX:153649287 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000288304]|Cardiomyopathy, left ventricular noncompaction [RCV000266172]|Cardiovascular phenotype [RCV000251950]|Endocardial fibroelastosis [RCV000385200]|Primary dilated cardiomyopathy [RCV000328398]|not provided [RCV000857893]|not specified [RCV000035103] ChrX:154420998 [GRCh38]
ChrX:153649337 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.542-20C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000609016]|not specified [RCV000128358] ChrX:154419685 [GRCh38]
ChrX:153648024 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) single nucleotide variant not specified [RCV000128359] ChrX:154420082 [GRCh38]
ChrX:153648421 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000116.5(TAFAZZIN):c.646+14C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001168940]|Endocardial fibroelastosis [RCV001166048]|Primary dilated cardiomyopathy [RCV001166047]|not specified [RCV000155815] ChrX:154420108 [GRCh38]
ChrX:153648447 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001306287] ChrX:154412186 [GRCh38]
ChrX:153640523 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000457435]|not specified [RCV000154416] ChrX:154420222 [GRCh38]
ChrX:153648561 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000154422] ChrX:154413544 [GRCh38]
ChrX:153641881 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.-17C>T single nucleotide variant not specified [RCV000154436] ChrX:154411827 [GRCh38]
ChrX:153640164 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153640181)_(153641904_?)del deletion 3-Methylglutaconic aciduria type 2 [RCV000154557] ChrX:153640181..153641904 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.708_709TG[1] (p.Val237fs) microsatellite 3-Methylglutaconic aciduria type 2 [RCV000154564] ChrX:154420666..154420667 [GRCh38]
ChrX:153649005..153649006 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000154666] ChrX:154420212 [GRCh38]
ChrX:153648551 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000705533]|not specified [RCV000151966] ChrX:154413528 [GRCh38]
ChrX:153641865 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001327792]|not specified [RCV000151967] ChrX:154414149 [GRCh38]
ChrX:153642486 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter) single nucleotide variant not provided [RCV000183906] ChrX:154412130 [GRCh38]
ChrX:153640467 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) single nucleotide variant not provided [RCV000183907] ChrX:154413248 [GRCh38]
ChrX:153641585 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) single nucleotide variant not provided [RCV000183908] ChrX:154419745 [GRCh38]
ChrX:153648084 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000819578]|not provided [RCV000183909] ChrX:154420239 [GRCh38]
ChrX:153648578 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000637295]|not provided [RCV000183910]|not specified [RCV000609126] ChrX:154420709 [GRCh38]
ChrX:153649048 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000817139]|not provided [RCV000183911] ChrX:154420721 [GRCh38]
ChrX:153649060 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001230858]|not provided [RCV000183912] ChrX:154420904 [GRCh38]
ChrX:153649243 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.4(TAZ):c.747_748delCGinsA (p.Glu250Serfs) indel not provided [RCV000183913] ChrX:154420705..154420706 [GRCh38]
ChrX:153649044..153649045 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) single nucleotide variant not provided [RCV000183914] ChrX:154412206 [GRCh38]
ChrX:153640543 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.526C>T (p.His176Tyr) single nucleotide variant not provided [RCV000183915] ChrX:154419608 [GRCh38]
ChrX:153647947 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.584-7del deletion 3-Methylglutaconic aciduria type 2 [RCV000206800] ChrX:154420025 [GRCh38]
ChrX:153648364 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.700-5C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000927936]|Primary familial hypertrophic cardiomyopathy [RCV000208291] ChrX:154420653 [GRCh38]
ChrX:153648992 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) single nucleotide variant not provided [RCV000220408] ChrX:154420975 [GRCh38]
ChrX:153649314 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.778-2A>G single nucleotide variant not provided [RCV000216377] ChrX:154420901 [GRCh38]
ChrX:153649240 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000695963]|Cardiomyopathy [RCV000769551]|not provided [RCV000216620] ChrX:154420716 [GRCh38]
ChrX:153649055 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.461-2A>G single nucleotide variant not provided [RCV000216671] ChrX:154419541 [GRCh38]
ChrX:153647880 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.572G>A (p.Arg191His) single nucleotide variant not provided [RCV000216922] ChrX:154419735 [GRCh38]
ChrX:153648074 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.460+1G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000226995]|not provided [RCV000658043] ChrX:154414191 [GRCh38]
ChrX:153642528 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000230434] ChrX:154412203 [GRCh38]
ChrX:153640540 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000230961] ChrX:154419746 [GRCh38]
ChrX:153648085 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs) deletion Cardiovascular phenotype [RCV000620932] ChrX:154412120 [GRCh38]
ChrX:153640457 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.*560G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000271777]|Cardiomyopathy, left ventricular noncompaction [RCV000359030]|Endocardial fibroelastosis [RCV000329136]|Primary dilated cardiomyopathy [RCV000362827] ChrX:154421564 [GRCh38]
ChrX:153649903 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000395947]|Cardiomyopathy, left ventricular noncompaction [RCV000307696]|Endocardial fibroelastosis [RCV000402701]|Primary dilated cardiomyopathy [RCV000350806]|not provided [RCV000841319] ChrX:154419586 [GRCh38]
ChrX:153647925 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAZ):c.-119= deletion 3-Methylglutaconic aciduria type 2 [RCV000367327]|Cardiomyopathy, left ventricular noncompaction [RCV000275048]|Dilated cardiomyopathy 3B [RCV000375201]|Endocardial fibroelastosis [RCV000318438] ChrX:154411725 [GRCh38]
ChrX:153640062 [GRCh37]
ChrX:Xq28
benign
NM_000116.5(TAFAZZIN):c.*396C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000395034]|Cardiomyopathy, left ventricular noncompaction [RCV000404306]|Endocardial fibroelastosis [RCV000280388]|Primary dilated cardiomyopathy [RCV000337834] ChrX:154421400 [GRCh38]
ChrX:153649739 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000116.5(TAFAZZIN):c.*387C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000388574]|Cardiomyopathy, left ventricular noncompaction [RCV000348366]|Endocardial fibroelastosis [RCV000326983]|Primary dilated cardiomyopathy [RCV000296655] ChrX:154421391 [GRCh38]
ChrX:153649730 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.-88G>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000378751]|Cardiomyopathy, left ventricular noncompaction [RCV000286363]|Endocardial fibroelastosis [RCV000317169]|Primary dilated cardiomyopathy [RCV000259528] ChrX:154411756 [GRCh38]
ChrX:153640093 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_000116.5(TAFAZZIN):c.*470= single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000298181]|Cardiomyopathy, left ventricular noncompaction [RCV000360069]|Endocardial fibroelastosis [RCV000395030]|Primary dilated cardiomyopathy [RCV000301850] ChrX:154421474 [GRCh38]
ChrX:153649813 [GRCh37]
ChrX:Xq28
benign
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000358603]|Cardiomyopathy [RCV000770597]|Cardiomyopathy, left ventricular noncompaction [RCV000354693]|Endocardial fibroelastosis [RCV000324398]|Primary dilated cardiomyopathy [RCV000266883]|not specified [RCV000606657] ChrX:154420240 [GRCh38]
ChrX:153648579 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_000116.5(TAFAZZIN):c.794C>T (p.Ala265Val) single nucleotide variant not provided [RCV000523892] ChrX:154420919 [GRCh38]
ChrX:153649258 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000816124]|not provided [RCV000489828] ChrX:154420094 [GRCh38]
ChrX:153648433 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000637296] ChrX:154412214 [GRCh38]
ChrX:153640551 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001078968]|Endocardial fibroelastosis [RCV001167616]|Primary dilated cardiomyopathy [RCV001167617]|not provided [RCV000521921] ChrX:154420719 [GRCh38]
ChrX:153649058 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAFAZZIN):c.542-3C>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000578250] ChrX:154419702 [GRCh38]
ChrX:153648041 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.461-16G>C single nucleotide variant not specified [RCV000601633] ChrX:154419527 [GRCh38]
ChrX:153647866 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.639G>A (p.Trp213Ter) single nucleotide variant not provided [RCV000598838] ChrX:154420087 [GRCh38]
ChrX:153648426 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.487dup (p.Asp163fs) duplication not provided [RCV000599372] ChrX:154419567..154419568 [GRCh38]
ChrX:153647906..153647907 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000637300] ChrX:154420076 [GRCh38]
ChrX:153648415 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.699+1G>A single nucleotide variant not provided [RCV000414633] ChrX:154420265 [GRCh38]
ChrX:153648604 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) deletion 3-Methylglutaconic aciduria type 2 [RCV000531914] ChrX:154420708..154420717 [GRCh38]
ChrX:153649047..153649056 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.284+3G>C single nucleotide variant not provided [RCV000731844] ChrX:154413255 [GRCh38]
ChrX:153641592 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=) single nucleotide variant not specified [RCV000434764] ChrX:154412207 [GRCh38]
ChrX:153640544 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=) single nucleotide variant not specified [RCV000418976] ChrX:154413518 [GRCh38]
ChrX:153641855 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.-37C>T single nucleotide variant not specified [RCV000442950] ChrX:154411807 [GRCh38]
ChrX:153640144 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000116.5(TAFAZZIN):c.110-6C>T single nucleotide variant Cardiomyopathy [RCV000770594]|not provided [RCV000950984]|not specified [RCV000426844] ChrX:154412080 [GRCh38]
ChrX:153640417 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=) single nucleotide variant not specified [RCV000437589] ChrX:154420042 [GRCh38]
ChrX:153648381 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000116.5(TAFAZZIN):c.421_424GGCA[1] (p.Arg142fs) microsatellite 3-Methylglutaconic aciduria type 2 [RCV001043342]|not provided [RCV000482188] ChrX:154414149..154414152 [GRCh38]
ChrX:153642486..153642489 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000471301] ChrX:154413249 [GRCh38]
ChrX:153641586 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000474914] ChrX:154412099 [GRCh38]
ChrX:153640436 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) single nucleotide variant not provided [RCV000472088] ChrX:154420225 [GRCh38]
ChrX:153648564 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.239-6del deletion not specified [RCV000482616] ChrX:154413200 [GRCh38]
ChrX:153641537 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000611350]|not provided [RCV000523344] ChrX:154420915 [GRCh38]
ChrX:153649254 [GRCh37]
ChrX:Xq28
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000116.5(TAFAZZIN):c.325C>T (p.His109Tyr) single nucleotide variant not provided [RCV000497863] ChrX:154413522 [GRCh38]
ChrX:153641859 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) deletion 3-Methylglutaconic aciduria type 2 [RCV000503128] ChrX:154420961 [GRCh38]
ChrX:153649300 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000116.5(TAFAZZIN):c.483del (p.Met162fs) deletion not specified [RCV000508564] ChrX:154419562 [GRCh38]
ChrX:153647901 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153418991-153644258)x3 copy number gain See cases [RCV000511851] ChrX:153418991..153644258 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001062495]|Caused by mutation in the tafazzin gene [RCV000496045] ChrX:154412130 [GRCh38]
ChrX:153640467 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000637299] ChrX:154420732 [GRCh38]
ChrX:153649071 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000605517] ChrX:154420705 [GRCh38]
ChrX:153649044 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.680dup (p.Tyr227Ter) duplication Left ventricular noncompaction [RCV000513310] ChrX:154420244..154420245 [GRCh38]
ChrX:153648583..153648584 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.541+3C>G single nucleotide variant Cardiovascular phenotype [RCV000617747] ChrX:154419626 [GRCh38]
ChrX:153647965 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) single nucleotide variant not provided [RCV000637298] ChrX:154419706 [GRCh38]
ChrX:153648045 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000637297] ChrX:154420926 [GRCh38]
ChrX:153649265 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.371-16G>T single nucleotide variant not specified [RCV000609693] ChrX:154414085 [GRCh38]
ChrX:153642422 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000538576]|not provided [RCV000827408] ChrX:154411912 [GRCh38]
ChrX:153640249 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) single nucleotide variant Cardiovascular phenotype [RCV000618005] ChrX:154420925 [GRCh38]
ChrX:153649264 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.108C>T (p.Thr36=) single nucleotide variant not specified [RCV000616107] ChrX:154411951 [GRCh38]
ChrX:153640288 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) single nucleotide variant not specified [RCV000613889] ChrX:154420720 [GRCh38]
ChrX:153649059 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) single nucleotide variant not specified [RCV000613994] ChrX:154412192 [GRCh38]
ChrX:153640529 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000616973] ChrX:154420042 [GRCh38]
ChrX:153648381 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NC_000023.10:g.153648583dupA duplication Left ventricular noncompaction [RCV000513310] ChrX:153648583 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) single nucleotide variant not specified [RCV000600705] ChrX:154414137 [GRCh38]
ChrX:153642474 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter) single nucleotide variant not provided [RCV000676908] ChrX:154419746 [GRCh38]
ChrX:153648085 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.207C>G (p.His69Gln) single nucleotide variant not provided [RCV000676907] ChrX:154412183 [GRCh38]
ChrX:153640520 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000678752] ChrX:154413564 [GRCh38]
ChrX:153641901 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153761134)x2 copy number gain not provided [RCV000684744] ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153579929)_(153649363_?)dup duplication Periventricular nodular heterotopia 1 [RCV000708327] ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.777+6T>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000700062] ChrX:154420741 [GRCh38]
ChrX:153649080 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000689221] ChrX:154413496 [GRCh38]
ChrX:153641833 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000703717] ChrX:154420054 [GRCh38]
ChrX:153648393 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.699+5G>A single nucleotide variant Primary familial dilated cardiomyopathy [RCV000845468] ChrX:154420269 [GRCh38]
ChrX:153648608 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000116.5(TAFAZZIN):c.236_238+5del deletion 3-Methylglutaconic aciduria type 2 [RCV001044975] ChrX:154412212..154412219 [GRCh38]
ChrX:153640549..153640556 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) single nucleotide variant not provided [RCV000869043] ChrX:154419724 [GRCh38]
ChrX:153648063 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) single nucleotide variant not provided [RCV000869635] ChrX:154419547 [GRCh38]
ChrX:153647886 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) single nucleotide variant not provided [RCV000880344] ChrX:154420243 [GRCh38]
ChrX:153648582 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001053235] ChrX:154420715 [GRCh38]
ChrX:153649054 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000995886] ChrX:154412214 [GRCh38]
ChrX:153640551 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.774_777+1dup duplication not provided [RCV000996073] ChrX:154420731..154420732 [GRCh38]
ChrX:153649070..153649071 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001036319] ChrX:154413221 [GRCh38]
ChrX:153641558 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001057771] ChrX:154414167 [GRCh38]
ChrX:153642504 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=) single nucleotide variant Cardiomyopathy [RCV000770595] ChrX:154413524 [GRCh38]
ChrX:153641861 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) deletion Cardiomyopathy [RCV000770598] ChrX:154420249 [GRCh38]
ChrX:153648588 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.371-6C>A single nucleotide variant Cardiomyopathy [RCV000770596] ChrX:154414095 [GRCh38]
ChrX:153642432 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000809073]|not provided [RCV001091835] ChrX:154413249 [GRCh38]
ChrX:153641586 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000876118] ChrX:154420989 [GRCh38]
ChrX:153649328 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000863226] ChrX:154419730 [GRCh38]
ChrX:153648069 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000864634] ChrX:154411922 [GRCh38]
ChrX:153640259 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000802614] ChrX:154419725 [GRCh38]
ChrX:153648064 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153577207)_(153650075_?)dup duplication Periventricular nodular heterotopia 1 [RCV000816614] ChrX:153577207..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.238+6C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000818250] ChrX:154412220 [GRCh38]
ChrX:153640557 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000802834] ChrX:154419739 [GRCh38]
ChrX:153648078 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000797844] ChrX:154419551 [GRCh38]
ChrX:153647890 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.238+11C>G single nucleotide variant not provided [RCV000839831] ChrX:154412225 [GRCh38]
ChrX:153640562 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.647-42C>T single nucleotide variant not provided [RCV000833416] ChrX:154420170 [GRCh38]
ChrX:153648509 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000801634] ChrX:154414146 [GRCh38]
ChrX:153642483 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000811455] ChrX:154420212 [GRCh38]
ChrX:153648551 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.461-46C>T single nucleotide variant not provided [RCV000834847] ChrX:154419497 [GRCh38]
ChrX:153647836 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.238+2_238+9del deletion 3-Methylglutaconic aciduria type 2 [RCV000818455] ChrX:154412213..154412220 [GRCh38]
ChrX:153640550..153640557 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000819778] ChrX:154420262 [GRCh38]
ChrX:153648601 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NM_000116.5(TAFAZZIN):c.284+4A>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000823073] ChrX:154413256 [GRCh38]
ChrX:153641593 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001167556]|Endocardial fibroelastosis [RCV001167554]|Primary dilated cardiomyopathy [RCV001167555] ChrX:154411892 [GRCh38]
ChrX:153640229 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000791613] ChrX:154413567 [GRCh38]
ChrX:153641904 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153640161)_(153649363_?)dup duplication 3-Methylglutaconic aciduria type 2 [RCV000808649] ChrX:153640161..153649363 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.*618A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001166585]|Endocardial fibroelastosis [RCV001166586]|Primary dilated cardiomyopathy [RCV001166587] ChrX:154421622 [GRCh38]
ChrX:153649961 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000803236] ChrX:154420254 [GRCh38]
ChrX:153648593 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000813199] ChrX:154411894 [GRCh38]
ChrX:153640231 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.738G>A (p.Leu246=) single nucleotide variant not provided [RCV000842290] ChrX:154420696 [GRCh38]
ChrX:153649035 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001168190]|Endocardial fibroelastosis [RCV001168191]|Primary dilated cardiomyopathy [RCV001168189] ChrX:154413548 [GRCh38]
ChrX:153641885 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 copy number gain not provided [RCV000847027] ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_153577207)_(153642537_?)dup duplication Periventricular nodular heterotopia 1 [RCV001031667] ChrX:153577207..153642537 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001222821] ChrX:154412203 [GRCh38]
ChrX:153640540 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001221809] ChrX:154414139 [GRCh38]
ChrX:153642476 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001226052] ChrX:154420974 [GRCh38]
ChrX:153649313 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV000853287] ChrX:154420936 [GRCh38]
ChrX:153649275 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_000116.5(TAFAZZIN):c.249A>G (p.Lys83=) single nucleotide variant not provided [RCV000996072] ChrX:154413217 [GRCh38]
ChrX:153641554 [GRCh37]
ChrX:Xq28
likely benign
NM_000116.5(TAFAZZIN):c.*33G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001167618]|Endocardial fibroelastosis [RCV001168260]|Primary dilated cardiomyopathy [RCV001167619] ChrX:154421037 [GRCh38]
ChrX:153649376 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001168188]|Endocardial fibroelastosis [RCV001168186]|Primary dilated cardiomyopathy [RCV001168187] ChrX:154413238 [GRCh38]
ChrX:153641575 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_000116.5(TAFAZZIN):c.647-6C>T single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001166050]|Endocardial fibroelastosis [RCV001166049]|Primary dilated cardiomyopathy [RCV001166051] ChrX:154420206 [GRCh38]
ChrX:153648545 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001169982]|Cardiomyopathy, left ventricular noncompaction [RCV000853160] ChrX:154411872 [GRCh38]
ChrX:153640209 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.355G>A (p.Val119Met) single nucleotide variant Cardiomyopathy, left ventricular noncompaction [RCV000853163] ChrX:154413552 [GRCh38]
ChrX:153641889 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) single nucleotide variant not provided [RCV000870086] ChrX:154420705 [GRCh38]
ChrX:153649044 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001036935] ChrX:154414190 [GRCh38]
ChrX:153642527 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.460+5G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001217162] ChrX:154414195 [GRCh38]
ChrX:153642532 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000116.5(TAFAZZIN):c.541+5G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001035843] ChrX:154419628 [GRCh38]
ChrX:153647967 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001036298] ChrX:154414160 [GRCh38]
ChrX:153642497 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.*648A>C single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001166588]|Endocardial fibroelastosis [RCV001168330]|Primary dilated cardiomyopathy [RCV001166589] ChrX:154421652 [GRCh38]
ChrX:153649991 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000116.5(TAFAZZIN):c.528_541+7del deletion 3-Methylglutaconic aciduria type 2 [RCV001061128] ChrX:154419607..154419627 [GRCh38]
ChrX:153647946..153647966 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.542-2A>G single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001061185] ChrX:154419703 [GRCh38]
ChrX:153648042 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.*165T>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001168261]|Endocardial fibroelastosis [RCV001168262]|Primary dilated cardiomyopathy [RCV001168263] ChrX:154421169 [GRCh38]
ChrX:153649508 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.777+3G>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001230899] ChrX:154420738 [GRCh38]
ChrX:153649077 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001215030] ChrX:154420709 [GRCh38]
ChrX:153649048 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001228815] ChrX:154411890 [GRCh38]
ChrX:153640227 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001036775] ChrX:154414110 [GRCh38]
ChrX:153642447 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001051674] ChrX:154411932 [GRCh38]
ChrX:153640269 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.777+1G>A single nucleotide variant Cardiomyopathy [RCV001193472] ChrX:154420736 [GRCh38]
ChrX:153649075 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001042821] ChrX:154411870 [GRCh38]
ChrX:153640207 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) single nucleotide variant Dilated cardiomyopathy 1A [RCV001256964] ChrX:154420222 [GRCh38]
ChrX:153648561 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153579929)_(153649363_?)dup duplication Periventricular nodular heterotopia 1 [RCV001313748] ChrX:153579929..153649363 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000116.5(TAFAZZIN):c.584-9C>A single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001341673] ChrX:154420023 [GRCh38]
ChrX:153648362 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001327775] ChrX:154412181 [GRCh38]
ChrX:153640518 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001326374] ChrX:154419705 [GRCh38]
ChrX:153648044 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001283758] ChrX:154420731 [GRCh38]
ChrX:153649070 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001306805] ChrX:154412160 [GRCh38]
ChrX:153640497 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001321649] ChrX:154414133 [GRCh38]
ChrX:153642470 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001338809] ChrX:154412166 [GRCh38]
ChrX:153640503 [GRCh37]
ChrX:Xq28
uncertain significance
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe) single nucleotide variant 3-Methylglutaconic aciduria type 2 [RCV001329032] ChrX:154412188 [GRCh38]
ChrX:153640525 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11577 AgrOrtholog
COSMIC TAFAZZIN COSMIC
Ensembl Genes ENSG00000102125 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358791 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000398193 UniProtKB/TrEMBL
  ENSP00000406257 UniProtKB/TrEMBL
  ENSP00000419854 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000469981 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478154 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479311 UniProtKB/TrEMBL
  ENSP00000480133 UniProtKB/TrEMBL
  ENSP00000481037 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481645 UniProtKB/TrEMBL
  ENSP00000482070 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483636 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000498288 UniProtKB/TrEMBL
  ENSP00000498464 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000498496 UniProtKB/TrEMBL
  ENSP00000498734 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000498858 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000498940 UniProtKB/TrEMBL
  ENSP00000498957 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369776 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000426231 UniProtKB/TrEMBL
  ENST00000439735 UniProtKB/TrEMBL
  ENST00000475699 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000479875 UniProtKB/TrEMBL
  ENST00000601016 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000612012 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000612460 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000613002 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000615986 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000616020 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000617701 UniProtKB/TrEMBL
  ENST00000620808 UniProtKB/TrEMBL
  ENST00000651139 UniProtKB/TrEMBL
  ENST00000652354 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000652358 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000652390 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000652644 UniProtKB/TrEMBL
  ENST00000652682 UniProtKB/TrEMBL
GTEx ENSG00000102125 GTEx
HGNC ID HGNC:11577 ENTREZGENE
Human Proteome Map TAFAZZIN Human Proteome Map
InterPro Plipid/glycerol_acylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tafazzin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6901 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6901 ENTREZGENE
OMIM 300394 OMIM
  302060 OMIM
PANTHER PTHR12497 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Acyltransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36341 PharmGKB
PRINTS TAFAZZIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PlsC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWD5_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4E6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4F4 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4K0 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4K9 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C004_HUMAN UniProtKB/TrEMBL
  A0A494C0C5_HUMAN UniProtKB/TrEMBL
  A0A494C0D2_HUMAN UniProtKB/TrEMBL
  A0A494C0V5_HUMAN UniProtKB/TrEMBL
  A0A494C141_HUMAN UniProtKB/TrEMBL
  A0A494C1B0_HUMAN UniProtKB/TrEMBL
  A0A494C1C6_HUMAN UniProtKB/TrEMBL
  A0A499FJ53_HUMAN UniProtKB/TrEMBL
  A6XNE1 ENTREZGENE, UniProtKB/TrEMBL
  C9J699_HUMAN UniProtKB/TrEMBL
  F6Y2X3_HUMAN UniProtKB/TrEMBL
  H7C2I9_HUMAN UniProtKB/TrEMBL
  Q16635 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A087X0T0 UniProtKB/TrEMBL
  A3KQT2 UniProtKB/Swiss-Prot
  D3DWX2 UniProtKB/Swiss-Prot
  Q5HY43 UniProtKB/Swiss-Prot
  Q5HY44 UniProtKB/Swiss-Prot
  Q5HY45 UniProtKB/Swiss-Prot
  Q5HY48 UniProtKB/Swiss-Prot
  Q86XQ6 UniProtKB/Swiss-Prot
  Q86XQ7 UniProtKB/Swiss-Prot
  Q86XQ8 UniProtKB/Swiss-Prot
  Q86XQ9 UniProtKB/Swiss-Prot
  Q86XR0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-15 TAFAZZIN  tafazzin, phospholipid-lysophospholipid transacylase  TAZ  tafazzin  Symbol and/or name change 19259463 PROVISIONAL