TAF10 (TATA-box binding protein associated factor 10) - Rat Genome Database

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Gene: TAF10 (TATA-box binding protein associated factor 10) Homo sapiens
Analyze
Symbol: TAF10
Name: TATA-box binding protein associated factor 10
RGD ID: 1314218
HGNC Page HGNC
Description: Enables RNA polymerase binding activity; identical protein binding activity; and nuclear estrogen receptor binding activity. Contributes to RNA polymerase II general transcription initiation factor activity and histone acetyltransferase activity. Involved in cellular protein modification process; positive regulation of transcription initiation from RNA polymerase II promoter; and transcription by RNA polymerase II. Located in nucleoplasm and perinuclear region of cytoplasm. Part of SAGA complex; transcription factor TFIID complex; and transcription factor TFTC complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: STAF28; TAF(II)30; TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa; TAF2A; TAF2H; TAFII-30; TAFII30; TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD; TATA box binding protein associated factor 10; transcription initiation factor TFIID 30 kD subunit; transcription initiation factor TFIID 30 kDa subunit; transcription initiation factor TFIID subunit 10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC022080.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,606,294 - 6,612,216 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl116,606,294 - 6,612,539 (-)EnsemblGRCh38hg38GRCh38
GRCh37116,627,524 - 6,633,447 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,588,649 - 6,590,021 (-)NCBINCBI36hg18NCBI36
Build 34116,588,648 - 6,590,021NCBI
Celera116,751,139 - 6,752,511 (-)NCBI
Cytogenetic Map11p15.4NCBI
HuRef116,290,980 - 6,292,407 (-)NCBIHuRef
CHM1_1116,630,949 - 6,632,376 (-)NCBICHM1_1
T2T-CHM13v2.0116,664,762 - 6,670,684 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1939271   PMID:2449431   PMID:7680771   PMID:7729427   PMID:7744009   PMID:7835343   PMID:7836461   PMID:7923369   PMID:7933101   PMID:8121496   PMID:8530084   PMID:8598193  
PMID:8680883   PMID:8764009   PMID:8764062   PMID:8849451   PMID:8946909   PMID:9054383   PMID:9153318   PMID:9154123   PMID:9212049   PMID:9405375   PMID:9603525   PMID:9674425  
PMID:9880483   PMID:9885574   PMID:10373431   PMID:10469660   PMID:11406595   PMID:11438666   PMID:11564863   PMID:12477932   PMID:12601814   PMID:12762840   PMID:14499622   PMID:14580349  
PMID:15053879   PMID:15099517   PMID:15115762   PMID:15489334   PMID:15870280   PMID:16169070   PMID:16415881   PMID:17375202   PMID:17599049   PMID:17643375   PMID:17694077   PMID:17709345  
PMID:17884155   PMID:17967894   PMID:18029348   PMID:18206972   PMID:18206973   PMID:18250150   PMID:19114550   PMID:19240132   PMID:20106982   PMID:20457598   PMID:20850016   PMID:21729782  
PMID:21873635   PMID:22323595   PMID:22834489   PMID:22939629   PMID:23292512   PMID:23332750   PMID:23827503   PMID:24981860   PMID:25586196   PMID:25609649   PMID:25959397   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26618866   PMID:26949251   PMID:27007846   PMID:27601583   PMID:27609421   PMID:28514442   PMID:29111974   PMID:29656893   PMID:30196744   PMID:30415952  
PMID:30463901   PMID:30554943   PMID:30804502   PMID:30890647   PMID:31527615   PMID:31753913   PMID:32513696   PMID:33022573   PMID:33961781   PMID:34373451   PMID:35140242   PMID:35271311  


Genomics

Comparative Map Data
TAF10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,606,294 - 6,612,216 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl116,606,294 - 6,612,539 (-)EnsemblGRCh38hg38GRCh38
GRCh37116,627,524 - 6,633,447 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,588,649 - 6,590,021 (-)NCBINCBI36hg18NCBI36
Build 34116,588,648 - 6,590,021NCBI
Celera116,751,139 - 6,752,511 (-)NCBI
Cytogenetic Map11p15.4NCBI
HuRef116,290,980 - 6,292,407 (-)NCBIHuRef
CHM1_1116,630,949 - 6,632,376 (-)NCBICHM1_1
T2T-CHM13v2.0116,664,762 - 6,670,684 (-)NCBI
Taf10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397105,392,101 - 105,393,586 (-)NCBIGRCm39mm39
GRCm39 Ensembl7105,388,600 - 105,393,568 (-)Ensembl
GRCm387105,742,894 - 105,744,375 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7105,739,393 - 105,744,361 (-)EnsemblGRCm38mm10GRCm38
MGSCv377112,891,408 - 112,892,852 (-)NCBIGRCm37mm9NCBIm37
MGSCv367105,616,715 - 105,618,159 (-)NCBImm8
Celera7106,014,194 - 106,015,638 (-)NCBICelera
Cytogenetic Map7E3NCBI
Taf10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21160,095,108 - 160,096,401 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1160,095,108 - 160,096,376 (-)Ensembl
Rnor_6.01170,585,160 - 170,586,428 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1170,585,167 - 170,586,603 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01177,591,012 - 177,592,301 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41163,487,518 - 163,488,786 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11163,583,074 - 163,584,248 (-)NCBI
Celera1158,027,205 - 158,028,473 (-)NCBICelera
Cytogenetic Map1q32NCBI
Taf10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541422,323,031 - 22,324,367 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541422,322,954 - 22,324,412 (-)NCBIChiLan1.0ChiLan1.0
TAF10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1116,421,205 - 6,427,243 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0116,742,862 - 6,744,260 (-)NCBIMhudiblu_PPA_v0panPan3
TAF10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12129,917,941 - 29,919,347 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2129,917,947 - 29,919,330 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2129,619,759 - 29,621,186 (-)NCBI
ROS_Cfam_1.02130,744,078 - 30,745,505 (-)NCBI
ROS_Cfam_1.0 Ensembl2130,744,108 - 30,745,491 (-)Ensembl
UMICH_Zoey_3.12130,064,852 - 30,066,279 (-)NCBI
UNSW_CanFamBas_1.02130,230,519 - 30,231,946 (-)NCBI
UU_Cfam_GSD_1.02130,425,838 - 30,427,265 (-)NCBI
Taf10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494756,006,151 - 56,007,527 (+)NCBI
SpeTri2.0NW_004936842667,960 - 669,367 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAF10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl93,144,277 - 3,145,720 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.193,144,262 - 3,145,702 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.293,801,493 - 3,803,485 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TAF10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1158,213,261 - 58,214,658 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl158,213,310 - 58,214,581 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038156,038,602 - 156,040,459 (+)NCBIVero_WHO_p1.0
Taf10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248178,103,065 - 8,104,420 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248178,103,065 - 8,104,435 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
A002C40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,631,813 - 6,632,034UniSTSGRCh37
Build 36116,588,389 - 6,588,610RGDNCBI36
Celera116,750,879 - 6,751,100RGD
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,290,745 - 6,290,966UniSTS
GeneMap99-GB4 RH Map1136.62UniSTS
WI-22555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,628,549 - 6,628,823UniSTSGRCh37
Build 36116,585,125 - 6,585,399RGDNCBI36
Celera116,747,616 - 6,747,890RGD
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,287,482 - 6,287,756UniSTS
GeneMap99-GB4 RH Map1138.54UniSTS
Whitehead-RH Map1142.2UniSTS
NCBI RH Map1124.0UniSTS
WI-11808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,634,009 - 6,634,134UniSTSGRCh37
Build 36116,590,585 - 6,590,710RGDNCBI36
Celera116,753,075 - 6,753,200RGD
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,292,941 - 6,293,066UniSTS
GeneMap99-GB4 RH Map1136.32UniSTS
Whitehead-RH Map1142.5UniSTS
NCBI RH Map1124.0UniSTS
PMC193924P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,634,560 - 6,634,826UniSTSGRCh37
Build 36116,591,136 - 6,591,402RGDNCBI36
Celera116,753,626 - 6,753,892RGD
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,293,492 - 6,293,758UniSTS
PMC99905P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,632,161 - 6,633,016UniSTSGRCh37
Build 36116,588,737 - 6,589,592RGDNCBI36
Celera116,751,227 - 6,752,082RGD
Cytogenetic Map11p15.3UniSTS
HuRef116,291,093 - 6,291,948UniSTS
PMC99905P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,632,161 - 6,633,133UniSTSGRCh37
Build 36116,588,737 - 6,589,709RGDNCBI36
Celera116,751,227 - 6,752,199RGD
Cytogenetic Map11p15.3UniSTS
HuRef116,291,093 - 6,292,065UniSTS
RH36325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,635,068 - 6,635,182UniSTSGRCh37
Build 36116,591,644 - 6,591,758RGDNCBI36
Celera116,754,134 - 6,754,248RGD
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,294,000 - 6,294,114UniSTS
GeneMap99-GB4 RH Map1136.42UniSTS
NCBI RH Map1124.0UniSTS
RH12375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,629,569 - 6,629,822UniSTSGRCh37
Build 36116,586,145 - 6,586,398RGDNCBI36
Celera116,748,636 - 6,748,889RGD
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,288,502 - 6,288,755UniSTS
GeneMap99-GB4 RH Map1136.42UniSTS
NCBI RH Map1124.0UniSTS
RH70892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,632,649 - 6,632,775UniSTSGRCh37
Build 36116,589,225 - 6,589,351RGDNCBI36
Celera116,751,715 - 6,751,841RGD
Cytogenetic Map11p15.3UniSTS
HuRef116,291,581 - 6,291,707UniSTS
GeneMap99-GB4 RH Map1136.62UniSTS
ILK_2854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,631,644 - 6,632,148UniSTSGRCh37
Build 36116,588,220 - 6,588,724RGDNCBI36
Celera116,750,710 - 6,751,214RGD
HuRef116,290,576 - 6,291,080UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1116
Count of miRNA genes:681
Interacting mature miRNAs:783
Transcripts:ENST00000299424, ENST00000526743, ENST00000527248, ENST00000531760, ENST00000532344
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2426 2941 1648 546 1559 389 4352 2170 3678 379 1417 1604 171 1204 2787 3
Low 10 43 75 77 388 75 3 24 30 39 36 5 1 1 1 1
Below cutoff 2 1 1 3 2 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000299424   ⟹   ENSP00000299424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,606,294 - 6,612,216 (-)Ensembl
RefSeq Acc Id: ENST00000527248   ⟹   ENSP00000480402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,610,845 - 6,612,189 (-)Ensembl
RefSeq Acc Id: ENST00000531760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,611,189 - 6,612,539 (-)Ensembl
RefSeq Acc Id: ENST00000532344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,611,401 - 6,612,177 (-)Ensembl
RefSeq Acc Id: ENST00000616342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,606,296 - 6,611,948 (-)Ensembl
RefSeq Acc Id: ENST00000693612   ⟹   ENSP00000508717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,610,842 - 6,612,076 (-)Ensembl
RefSeq Acc Id: NM_006284   ⟹   NP_006275
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,606,294 - 6,612,216 (-)NCBI
GRCh37116,632,048 - 6,633,475 (-)ENTREZGENE
Build 36116,588,649 - 6,590,021 (-)NCBI Archive
HuRef116,290,980 - 6,292,407 (-)ENTREZGENE
CHM1_1116,630,949 - 6,632,376 (-)NCBI
T2T-CHM13v2.0116,664,762 - 6,670,684 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006275   ⟸   NM_006284
- UniProtKB: Q12962 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000299424   ⟸   ENST00000299424
RefSeq Acc Id: ENSP00000480402   ⟸   ENST00000527248
RefSeq Acc Id: ENSP00000508717   ⟸   ENST00000693612

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q12962-F1-model_v2 AlphaFold Q12962 1-218 view protein structure

Promoters
RGD ID:6789419
Promoter ID:HG_KWN:12223
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:OTTHUMT00000257259
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,590,081 - 6,591,462 (-)MPROMDB
RGD ID:7219527
Promoter ID:EPDNEW_H15509
Type:initiation region
Name:TAF10_1
Description:TATA-box binding protein associated factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15510  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,612,214 - 6,612,274EPDNEW
RGD ID:7219531
Promoter ID:EPDNEW_H15510
Type:initiation region
Name:TAF10_2
Description:TATA-box binding protein associated factor 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15509  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,612,574 - 6,612,634EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 copy number gain See cases [RCV000053616] Chr11:3745061..7846057 [GRCh38]
Chr11:3766291..7867604 [GRCh37]
Chr11:3722867..7824180 [NCBI36]
Chr11:11p15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3 copy number gain See cases [RCV000136804] Chr11:6261582..6637999 [GRCh38]
Chr11:6282812..6659230 [GRCh37]
Chr11:6239388..6615806 [NCBI36]
Chr11:11p15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_004517.4(ILK):c.647A>G (p.Asp216Gly) single nucleotide variant not provided [RCV001730284] Chr11:6609327 [GRCh38]
Chr11:6630558 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_004517.4(ILK):c.352-9T>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000866152] Chr11:6608685 [GRCh38]
Chr11:6629915 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.501A>G (p.Thr167=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001432842]|not provided [RCV000945092] Chr11:6608936 [GRCh38]
Chr11:6630167 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.90-5C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001504053]|not provided [RCV000866331] Chr11:6608041 [GRCh38]
Chr11:6629271 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.163A>G (p.Met55Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001053599] Chr11:6608119 [GRCh38]
Chr11:6629349 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.9:g.(?_5709028)_(6640651_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032559] Chr11:5709028..6640651 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1046G>A (p.Arg349His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001071863] Chr11:6610003 [GRCh38]
Chr11:6631234 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1079-14C>A single nucleotide variant not specified [RCV000438289] Chr11:6610134 [GRCh38]
Chr11:6631365 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.707A>G (p.Asn236Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001084716]|not provided [RCV000757407] Chr11:6609387 [GRCh38]
Chr11:6630618 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.130G>C (p.Glu44Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000555076]|not provided [RCV000497634] Chr11:6608086 [GRCh38]
Chr11:6629316 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_004517.4(ILK):c.1252T>C (p.Ser418Pro) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000547062] Chr11:6610504 [GRCh38]
Chr11:6631735 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.632G>A (p.Arg211His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001236813]|not specified [RCV000609112] Chr11:6609312 [GRCh38]
Chr11:6630543 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1079-8C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001860260]|not specified [RCV000610031] Chr11:6610140 [GRCh38]
Chr11:6631371 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_004517.4(ILK):c.252G>A (p.Gln84=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001393025]|not provided [RCV001640335]|not specified [RCV000217512] Chr11:6608208 [GRCh38]
Chr11:6629438 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.979-17dup duplication not specified [RCV000615494] Chr11:6609918..6609919 [GRCh38]
Chr11:6631149..6631150 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.211del (p.Leu71fs) deletion not specified [RCV000190598] Chr11:6608162 [GRCh38]
Chr11:6629392 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.206C>T (p.Thr69Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000529247] Chr11:6608162 [GRCh38]
Chr11:6629392 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1197G>A (p.Glu399=) single nucleotide variant not specified [RCV000426597] Chr11:6610266 [GRCh38]
Chr11:6631497 [GRCh37]
Chr11:11p15.4
likely benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
NM_004517.4(ILK):c.234A>G (p.Gly78=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001435791]|not provided [RCV000826924] Chr11:6608190 [GRCh38]
Chr11:6629420 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.708T>C (p.Asn236=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001476490]|not provided [RCV000940115] Chr11:6609388 [GRCh38]
Chr11:6630619 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.93C>T (p.Asp31=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002064477]|not provided [RCV000863926] Chr11:6608049 [GRCh38]
Chr11:6629279 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1263G>T (p.Val421=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000869957] Chr11:6610515 [GRCh38]
Chr11:6631746 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.183T>C (p.Asn61=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001443143]|not provided [RCV000939647] Chr11:6608139 [GRCh38]
Chr11:6629369 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.255+89G>A single nucleotide variant not provided [RCV000831961] Chr11:6608300 [GRCh38]
Chr11:6629530 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.1112G>A (p.Arg371His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001865539]|not provided [RCV000494130] Chr11:6610181 [GRCh38]
Chr11:6631412 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1296C>T (p.Asp432=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001451602]|not specified [RCV000441662] Chr11:6610548 [GRCh38]
Chr11:6631779 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.146T>C (p.Val49Ala) single nucleotide variant not provided [RCV000498513] Chr11:6608102 [GRCh38]
Chr11:6629332 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.962A>G (p.Asn321Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157247] Chr11:6609829 [GRCh38]
Chr11:6631060 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.351+39G>A single nucleotide variant not provided [RCV000832927] Chr11:6608528 [GRCh38]
Chr11:6629758 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.164_181del (p.Met55_Ile60del) deletion Primary familial hypertrophic cardiomyopathy [RCV000820041] Chr11:6608115..6608132 [GRCh38]
Chr11:6629345..6629362 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.386G>C (p.Cys129Ser) single nucleotide variant not provided [RCV000786321] Chr11:6608728 [GRCh38]
Chr11:6629958 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1079-18C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002055571]|not specified [RCV000125419] Chr11:6610130 [GRCh38]
Chr11:6631361 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.277A>G (p.Ile93Val) single nucleotide variant not provided [RCV000482953] Chr11:6608415 [GRCh38]
Chr11:6629645 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1306C>T (p.Arg436Ter) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000810048] Chr11:6610558 [GRCh38]
Chr11:6631789 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1079-10A>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001451940]|not provided [RCV000841749]|not specified [RCV001727804] Chr11:6610138 [GRCh38]
Chr11:6631369 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_004517.4(ILK):c.734T>A (p.Phe245Tyr) single nucleotide variant Primary dilated cardiomyopathy [RCV000208000] Chr11:6609517 [GRCh38]
Chr11:6630748 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.446G>A (p.Arg149Gln) single nucleotide variant Long QT syndrome [RCV000208422]|Primary familial hypertrophic cardiomyopathy [RCV001211006]|not provided [RCV000520010] Chr11:6608788 [GRCh38]
Chr11:6630018 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.157T>A (p.Leu53Met) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157246]|not provided [RCV000757406] Chr11:6608113 [GRCh38]
Chr11:6629343 [GRCh37]
Chr11:11p15.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.337G>T (p.Asp113Tyr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000546414] Chr11:6608475 [GRCh38]
Chr11:6629705 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.857-12G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002057111]|not specified [RCV000217112] Chr11:6609712 [GRCh38]
Chr11:6630943 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_004517.4(ILK):c.448+12del deletion Cardiomyopathy [RCV000183455]|not specified [RCV000611093] Chr11:6608799 [GRCh38]
Chr11:6630029 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.282T>C (p.Asn94=) single nucleotide variant Cardiovascular phenotype [RCV000617603]|Primary familial hypertrophic cardiomyopathy [RCV000638618]|not provided [RCV001703546] Chr11:6608420 [GRCh38]
Chr11:6629650 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_004517.4(ILK):c.918C>T (p.Ala306=) single nucleotide variant Cardiovascular phenotype [RCV000618967]|Primary familial hypertrophic cardiomyopathy [RCV001513851]|not specified [RCV000125418] Chr11:6609785 [GRCh38]
Chr11:6631016 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.503T>G (p.Phe168Cys) single nucleotide variant Cardiovascular phenotype [RCV000619469]|Primary familial hypertrophic cardiomyopathy [RCV001506166] Chr11:6608938 [GRCh38]
Chr11:6630169 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_004517.4(ILK):c.223G>C (p.Ala75Pro) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000690520] Chr11:6608179 [GRCh38]
Chr11:6629409 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.819G>A (p.Pro273=) single nucleotide variant Cardiovascular phenotype [RCV000620508]|Primary familial hypertrophic cardiomyopathy [RCV001516883]|not specified [RCV000125417] Chr11:6609602 [GRCh38]
Chr11:6630833 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.297C>T (p.His99=) single nucleotide variant Cardiovascular phenotype [RCV000620958]|Primary familial hypertrophic cardiomyopathy [RCV001516882]|not specified [RCV000125415] Chr11:6608435 [GRCh38]
Chr11:6629665 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.1020C>T (p.Val340=) single nucleotide variant not provided [RCV000122481] Chr11:6609977 [GRCh38]
Chr11:6631208 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.219G>C (p.Leu73=) single nucleotide variant not specified [RCV000431078] Chr11:6608175 [GRCh38]
Chr11:6629405 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.255+10A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001453520]|not provided [RCV001704332] Chr11:6608221 [GRCh38]
Chr11:6629451 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1258C>T (p.His420Tyr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000638615] Chr11:6610510 [GRCh38]
Chr11:6631741 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.351+19A>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002059743]|not specified [RCV000422672] Chr11:6608508 [GRCh38]
Chr11:6629738 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.466G>A (p.Gly156Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000824494]|not provided [RCV001528263] Chr11:6608901 [GRCh38]
Chr11:6630132 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.618+23T>C single nucleotide variant not provided [RCV000830425] Chr11:6609179 [GRCh38]
Chr11:6630410 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.864C>T (p.Val288=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000868778]|not specified [RCV000605278] Chr11:6609731 [GRCh38]
Chr11:6630962 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_004517.4(ILK):c.728+13G>A single nucleotide variant not specified [RCV000604365] Chr11:6609421 [GRCh38]
Chr11:6630652 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.175C>T (p.Arg59Trp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000706695]|not provided [RCV000183459] Chr11:6608131 [GRCh38]
Chr11:6629361 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.222A>T (p.Ala74=) single nucleotide variant not specified [RCV000608102] Chr11:6608178 [GRCh38]
Chr11:6629408 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1180G>A (p.Asp394Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157248] Chr11:6610249 [GRCh38]
Chr11:6631480 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.618+10G>A single nucleotide variant not specified [RCV000215415] Chr11:6609166 [GRCh38]
Chr11:6630397 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.532+14G>A single nucleotide variant not specified [RCV000221726] Chr11:6608981 [GRCh38]
Chr11:6630212 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.236A>T (p.His79Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000812749] Chr11:6608192 [GRCh38]
Chr11:6629422 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.184G>A (p.Val62Ile) single nucleotide variant Cardiovascular phenotype [RCV000621835]|Primary familial hypertrophic cardiomyopathy [RCV001305619]|not provided [RCV000183460] Chr11:6608140 [GRCh38]
Chr11:6629370 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.669G>T (p.Lys223Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001088134]|not provided [RCV000183462] Chr11:6609349 [GRCh38]
Chr11:6630580 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000143901]|not provided [RCV001529362]|not specified [RCV000183461] Chr11:6609311 [GRCh38]
Chr11:6630542 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.521G>A (p.Arg174His) single nucleotide variant Cardiovascular phenotype [RCV000621572]|Primary familial hypertrophic cardiomyopathy [RCV001351095] Chr11:6608956 [GRCh38]
Chr11:6630187 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.255+4C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000476681]|not provided [RCV001721370] Chr11:6608215 [GRCh38]
Chr11:6629445 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_004517.4(ILK):c.580A>G (p.Asn194Asp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000638614] Chr11:6609118 [GRCh38]
Chr11:6630349 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.279C>A (p.Ile93=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001504425]|not specified [RCV000429587] Chr11:6608417 [GRCh38]
Chr11:6629647 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1353C>G (p.Asp451Glu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000701076] Chr11:6610605 [GRCh38]
Chr11:6631836 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.504C>G (p.Phe168Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000638616] Chr11:6608939 [GRCh38]
Chr11:6630170 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.785C>T (p.Ala262Val) single nucleotide variant Variant of unknown significance [RCV000043520] Chr11:6609568 [GRCh38]
Chr11:6630799 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.600C>T (p.Asn200=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002063510]|not specified [RCV000431303] Chr11:6609138 [GRCh38]
Chr11:6630369 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.351+10C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001460751]|not specified [RCV000436407] Chr11:6608499 [GRCh38]
Chr11:6629729 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.619-12C>A single nucleotide variant not provided [RCV000841422] Chr11:6609287 [GRCh38]
Chr11:6630518 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.778C>T (p.Pro260Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000692720]|not specified [RCV000214294] Chr11:6609561 [GRCh38]
Chr11:6630792 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.619-6C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000233448]|not provided [RCV001092690] Chr11:6609293 [GRCh38]
Chr11:6630524 [GRCh37]
Chr11:11p15.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.435A>C (p.Arg145Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000472252]|not specified [RCV000183454] Chr11:6608777 [GRCh38]
Chr11:6630007 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_004517.4(ILK):c.601G>A (p.Glu201Lys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000811938]|not specified [RCV000414750] Chr11:6609139 [GRCh38]
Chr11:6630370 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.458A>G (p.Glu153Gly) single nucleotide variant not provided [RCV001574022] Chr11:6608893 [GRCh38]
Chr11:6630124 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_004517.4(ILK):c.729-7C>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000475855]|not provided [RCV001703864] Chr11:6609505 [GRCh38]
Chr11:6630736 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.468C>A (p.Gly156=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000638617] Chr11:6608903 [GRCh38]
Chr11:6630134 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.*2A>G single nucleotide variant not specified [RCV000424618] Chr11:6610613 [GRCh38]
Chr11:6631844 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1285A>G (p.Met429Val) single nucleotide variant not specified [RCV000601675] Chr11:6610537 [GRCh38]
Chr11:6631768 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:6607967-6796286)x3 copy number gain not provided [RCV000846249] Chr11:6607967..6796286 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3 copy number gain not provided [RCV000849971] Chr11:5896551..6719852 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1256C>T (p.Pro419Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001209258]|not provided [RCV002224023] Chr11:6610508 [GRCh38]
Chr11:6631739 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1045C>T (p.Arg349Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001211196] Chr11:6610002 [GRCh38]
Chr11:6631233 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1162C>T (p.Arg388Trp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001224448] Chr11:6610231 [GRCh38]
Chr11:6631462 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.879G>C (p.Gln293His) single nucleotide variant See cases [RCV001198754] Chr11:6609746 [GRCh38]
Chr11:6630977 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.906A>G (p.Ala302=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002073358]|not provided [RCV001714553] Chr11:6609773 [GRCh38]
Chr11:6631004 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_004517.4(ILK):c.857-10C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001444951]|not provided [RCV000932338] Chr11:6609714 [GRCh38]
Chr11:6630945 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.969T>C (p.Arg323=) single nucleotide variant not provided [RCV000923130] Chr11:6609836 [GRCh38]
Chr11:6631067 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.452G>A (p.Arg151Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001054638] Chr11:6608887 [GRCh38]
Chr11:6630118 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.757G>C (p.Val253Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001227385] Chr11:6609540 [GRCh38]
Chr11:6630771 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.451C>T (p.Arg151Trp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001241344] Chr11:6608886 [GRCh38]
Chr11:6630117 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.296A>C (p.His99Pro) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001212152] Chr11:6608434 [GRCh38]
Chr11:6629664 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_006284.4(TAF10):c.275T>C (p.Ile92Thr) single nucleotide variant not provided [RCV000957894] Chr11:6611776 [GRCh38]
Chr11:6633007 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.714G>A (p.Glu238=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000934412] Chr11:6609394 [GRCh38]
Chr11:6630625 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1210-4G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002073259]|not provided [RCV001698920] Chr11:6610458 [GRCh38]
Chr11:6631689 [GRCh37]
Chr11:11p15.4
benign|likely benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_004517.4(ILK):c.255+3A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001069587] Chr11:6608214 [GRCh38]
Chr11:6629444 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.169G>A (p.Gly57Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001069447] Chr11:6608125 [GRCh38]
Chr11:6629355 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1238T>A (p.Ile413Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001035063] Chr11:6610490 [GRCh38]
Chr11:6631721 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.799C>G (p.Leu267Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001207142] Chr11:6609582 [GRCh38]
Chr11:6630813 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.193C>T (p.Arg65Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001045425] Chr11:6608149 [GRCh38]
Chr11:6629379 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.428C>T (p.Pro143Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001066281] Chr11:6608770 [GRCh38]
Chr11:6630000 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1357T>C (p.Ter453Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001242658] Chr11:6610609 [GRCh38]
Chr11:6631840 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.614G>A (p.Gly205Glu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001071240] Chr11:6609152 [GRCh38]
Chr11:6630383 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1149G>A (p.Trp383Ter) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001041826] Chr11:6610218 [GRCh38]
Chr11:6631449 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_004517.4(ILK):c.721C>T (p.Arg241Trp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001873743]|not provided [RCV001529662] Chr11:6609401 [GRCh38]
Chr11:6630632 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.551A>C (p.Lys184Thr) single nucleotide variant not provided [RCV001528579] Chr11:6609089 [GRCh38]
Chr11:6630320 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1321_1322del (p.Met441fs) deletion Primary familial hypertrophic cardiomyopathy [RCV001327566] Chr11:6610573..6610574 [GRCh38]
Chr11:6631804..6631805 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.256-7G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001337486] Chr11:6608387 [GRCh38]
Chr11:6629617 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.654C>T (p.Val218=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001412531] Chr11:6609334 [GRCh38]
Chr11:6630565 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1122C>T (p.Asp374=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001413110] Chr11:6610191 [GRCh38]
Chr11:6631422 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.968G>A (p.Arg323His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001345837] Chr11:6609835 [GRCh38]
Chr11:6631066 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.673C>T (p.Arg225Ter) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001321849] Chr11:6609353 [GRCh38]
Chr11:6630584 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.958C>A (p.Leu320Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001365097] Chr11:6609825 [GRCh38]
Chr11:6631056 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.586C>G (p.Leu196Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001323102] Chr11:6609124 [GRCh38]
Chr11:6630355 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1307G>A (p.Arg436Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001322222] Chr11:6610559 [GRCh38]
Chr11:6631790 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1301C>A (p.Ala434Glu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001372928] Chr11:6610553 [GRCh38]
Chr11:6631784 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.766G>A (p.Ala256Thr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001337324] Chr11:6609549 [GRCh38]
Chr11:6630780 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1331C>A (p.Pro444His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001345628] Chr11:6610583 [GRCh38]
Chr11:6631814 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1322T>G (p.Met441Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001366129] Chr11:6610574 [GRCh38]
Chr11:6631805 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.175C>G (p.Arg59Gly) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001314361] Chr11:6608131 [GRCh38]
Chr11:6629361 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.958C>G (p.Leu320Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001314416] Chr11:6609825 [GRCh38]
Chr11:6631056 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.978+5_979-38dup duplication Primary familial hypertrophic cardiomyopathy [RCV001299376] Chr11:6609849..6609850 [GRCh38]
Chr11:6631080..6631081 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.861C>T (p.Phe287=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001421563] Chr11:6609728 [GRCh38]
Chr11:6630959 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.909G>A (p.Arg303=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001421154] Chr11:6609776 [GRCh38]
Chr11:6631007 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.674G>A (p.Arg225Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001366941] Chr11:6609354 [GRCh38]
Chr11:6630585 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.9:g.(?_5709028)_(6640651_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032559]|not provided [RCV001327815] Chr11:5709028..6640651 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.636G>T (p.Trp212Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001339475] Chr11:6609316 [GRCh38]
Chr11:6630547 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.818C>G (p.Pro273Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001413866] Chr11:6609601 [GRCh38]
Chr11:6630832 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.930A>T (p.Thr310=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001478819] Chr11:6609797 [GRCh38]
Chr11:6631028 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.885G>A (p.Val295=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001473738] Chr11:6609752 [GRCh38]
Chr11:6630983 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.555C>T (p.His185=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001459007] Chr11:6609093 [GRCh38]
Chr11:6630324 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1227T>C (p.Leu409=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001497668] Chr11:6610479 [GRCh38]
Chr11:6631710 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.9:g.(?_6559613)_(6640631_?)del deletion not provided [RCV001386249] Chr11:6559613..6640631 [GRCh37]
Chr11:11p15.4
pathogenic
NM_004517.4(ILK):c.1188C>A (p.Ser396=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001453524] Chr11:6610257 [GRCh38]
Chr11:6631488 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.801C>T (p.Leu267=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001488136] Chr11:6609584 [GRCh38]
Chr11:6630815 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.522C>T (p.Arg174=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001441708] Chr11:6608957 [GRCh38]
Chr11:6630188 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1266T>C (p.Cys422=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001428677] Chr11:6610518 [GRCh38]
Chr11:6631749 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.738G>C (p.Ser246=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001408185] Chr11:6609521 [GRCh38]
Chr11:6630752 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.171G>A (p.Gly57=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001432115] Chr11:6608127 [GRCh38]
Chr11:6629357 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.117C>T (p.His39=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001499045] Chr11:6608073 [GRCh38]
Chr11:6629303 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.90-234G>A single nucleotide variant not provided [RCV001710828] Chr11:6607812 [GRCh38]
Chr11:6629042 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.1140G>C (p.Val380=) single nucleotide variant not provided [RCV001618925] Chr11:6610209 [GRCh38]
Chr11:6631440 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.448+9= variation Primary familial hypertrophic cardiomyopathy [RCV001513850]|not provided [RCV001529746]|not specified [RCV001727861] Chr11:6608799..6608802 [GRCh38]
Chr11:6630030..6630033 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_004517.4(ILK):c.207C>T (p.Thr69=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001495862] Chr11:6608163 [GRCh38]
Chr11:6629393 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1210-5C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001393971] Chr11:6610457 [GRCh38]
Chr11:6631688 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1066G>A (p.Val356Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002074033]|not provided [RCV001769937] Chr11:6610023 [GRCh38]
Chr11:6631254 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1209+52A>C single nucleotide variant not provided [RCV001769687] Chr11:6610330 [GRCh38]
Chr11:6631561 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.352-4C>G single nucleotide variant not provided [RCV001757798] Chr11:6608690 [GRCh38]
Chr11:6629920 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.*61C>T single nucleotide variant not provided [RCV001752883] Chr11:6610672 [GRCh38]
Chr11:6631903 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.255+19G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001891397] Chr11:6608230 [GRCh38]
Chr11:6629460 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.481C>T (p.Arg161Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001896916] Chr11:6608916 [GRCh38]
Chr11:6630147 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.856+3G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001896267] Chr11:6609642 [GRCh38]
Chr11:6630873 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1046G>T (p.Arg349Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001913168] Chr11:6610003 [GRCh38]
Chr11:6631234 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1270C>G (p.Leu424Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001911001] Chr11:6610522 [GRCh38]
Chr11:6631753 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.613G>A (p.Gly205Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001967139] Chr11:6609151 [GRCh38]
Chr11:6630382 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.590C>T (p.Thr197Met) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001984975] Chr11:6609128 [GRCh38]
Chr11:6630359 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1018G>A (p.Val340Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002043806] Chr11:6609975 [GRCh38]
Chr11:6631206 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3 copy number gain not provided [RCV001836564] Chr11:6502523..7248333 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1086G>C (p.Gln362His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001911736]|not provided [RCV002224110] Chr11:6610155 [GRCh38]
Chr11:6631386 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1052A>G (p.Tyr351Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002021027] Chr11:6610009 [GRCh38]
Chr11:6631240 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1214C>T (p.Ala405Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002022732] Chr11:6610466 [GRCh38]
Chr11:6631697 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.110C>T (p.Pro37Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001945068] Chr11:6608066 [GRCh38]
Chr11:6629296 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.436G>C (p.Glu146Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001926392] Chr11:6608778 [GRCh38]
Chr11:6630008 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1111C>T (p.Arg371Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001943925] Chr11:6610180 [GRCh38]
Chr11:6631411 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1210-2A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001954545] Chr11:6610460 [GRCh38]
Chr11:6631691 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1022A>G (p.Lys341Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002047169] Chr11:6609979 [GRCh38]
Chr11:6631210 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.373C>G (p.Leu125Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002035652] Chr11:6608715 [GRCh38]
Chr11:6629945 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.656T>A (p.Val219Glu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001879628] Chr11:6609336 [GRCh38]
Chr11:6630567 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.137G>A (p.Arg46His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001886529] Chr11:6608093 [GRCh38]
Chr11:6629323 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.352G>A (p.Asp118Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001935701] Chr11:6608694 [GRCh38]
Chr11:6629924 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.856+1G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002048291] Chr11:6609640 [GRCh38]
Chr11:6630871 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1078+5G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002050846] Chr11:6610040 [GRCh38]
Chr11:6631271 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.836A>G (p.Asn279Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001864971] Chr11:6609619 [GRCh38]
Chr11:6630850 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.370G>T (p.Ala124Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001937404] Chr11:6608712 [GRCh38]
Chr11:6629942 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.422A>G (p.Lys141Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001957747] Chr11:6608764 [GRCh38]
Chr11:6629994 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.862G>A (p.Val288Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001952021] Chr11:6609729 [GRCh38]
Chr11:6630960 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.1347G>A (p.Met449Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001979554] Chr11:6610599 [GRCh38]
Chr11:6631830 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.395A>G (p.Tyr132Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002018447] Chr11:6608737 [GRCh38]
Chr11:6629967 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.695G>A (p.Ser232Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001864884] Chr11:6609375 [GRCh38]
Chr11:6630606 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.857-10C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001953962] Chr11:6609714 [GRCh38]
Chr11:6630945 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.128G>A (p.Arg43Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001906275] Chr11:6608084 [GRCh38]
Chr11:6629314 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.387T>C (p.Cys129=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002167234] Chr11:6608729 [GRCh38]
Chr11:6629959 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.764G>T (p.Gly255Val) single nucleotide variant not provided [RCV002223388] Chr11:6609547 [GRCh38]
Chr11:6630778 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_004517.4(ILK):c.619-11C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002205699] Chr11:6609288 [GRCh38]
Chr11:6630519 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.352-8C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002190965] Chr11:6608686 [GRCh38]
Chr11:6629916 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.90-17T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002127274] Chr11:6608029 [GRCh38]
Chr11:6629259 [GRCh37]
Chr11:11p15.4
benign
NM_004517.4(ILK):c.448+11C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002109216] Chr11:6608801 [GRCh38]
Chr11:6630032 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.837T>C (p.Asn279=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002127543] Chr11:6609620 [GRCh38]
Chr11:6630851 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.449-15G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002168785] Chr11:6608869 [GRCh38]
Chr11:6630100 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.619-18C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002089500] Chr11:6609281 [GRCh38]
Chr11:6630512 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.856+14T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002097533] Chr11:6609653 [GRCh38]
Chr11:6630884 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1209+13C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002087984] Chr11:6610291 [GRCh38]
Chr11:6631522 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1210-13C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002213149] Chr11:6610449 [GRCh38]
Chr11:6631680 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.978+10C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002130871] Chr11:6609855 [GRCh38]
Chr11:6631086 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.288G>A (p.Val96=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002150966] Chr11:6608426 [GRCh38]
Chr11:6629656 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.924A>G (p.Leu308=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002088780] Chr11:6609791 [GRCh38]
Chr11:6631022 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.449-11T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002114810] Chr11:6608873 [GRCh38]
Chr11:6630104 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.588G>A (p.Leu196=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002114873] Chr11:6609126 [GRCh38]
Chr11:6630357 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.231T>C (p.His77=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002116825] Chr11:6608187 [GRCh38]
Chr11:6629417 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.979-20A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002159400] Chr11:6609916 [GRCh38]
Chr11:6631147 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1210-20T>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002177088] Chr11:6610442 [GRCh38]
Chr11:6631673 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.533-14G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002217468] Chr11:6609057 [GRCh38]
Chr11:6630288 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.111C>T (p.Pro37=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002219542] Chr11:6608067 [GRCh38]
Chr11:6629297 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1079-15G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002178214] Chr11:6610133 [GRCh38]
Chr11:6631364 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.351+18A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002137902] Chr11:6608507 [GRCh38]
Chr11:6629737 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1041T>C (p.Pro347=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002199329] Chr11:6609998 [GRCh38]
Chr11:6631229 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.619-9G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002142987] Chr11:6609290 [GRCh38]
Chr11:6630521 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1338T>C (p.Leu446=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002162157] Chr11:6610590 [GRCh38]
Chr11:6631821 [GRCh37]
Chr11:11p15.4
likely benign
NM_004517.4(ILK):c.1014T>C (p.Ala338=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002141729] Chr11:6609971 [GRCh38]
Chr11:6631202 [GRCh37]
Chr11:11p15.4
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11543 AgrOrtholog
COSMIC TAF10 COSMIC
Ensembl Genes ENSG00000166337 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000299424 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000480402 UniProtKB/TrEMBL
Ensembl Transcript ENST00000299424 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527248 UniProtKB/TrEMBL
GTEx ENSG00000166337 GTEx
HGNC ID HGNC:11543 ENTREZGENE
Human Proteome Map TAF10 Human Proteome Map
InterPro TFIID_30kDa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6881 UniProtKB/Swiss-Prot
NCBI Gene 6881 ENTREZGENE
OMIM 600475 OMIM
PANTHER PTHR21242 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TFIID_30kDa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36318 PharmGKB
PIRSF TFIID_TAF10 UniProtKB/Swiss-Prot
PRINTS TFIID30KDSUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWP5_HUMAN UniProtKB/TrEMBL
  Q12962 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O00703 UniProtKB/Swiss-Prot
  Q13175 UniProtKB/Swiss-Prot
  Q6FH13 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TAF10  TATA-box binding protein associated factor 10    TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa  Symbol and/or name change 5135510 APPROVED
2011-08-16 TAF10  TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa  TAF10  TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa  Symbol and/or name change 5135510 APPROVED