FHL1 (four and a half LIM domains 1) - Rat Genome Database

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Gene: FHL1 (four and a half LIM domains 1) Homo sapiens
Analyze
Symbol: FHL1
Name: four and a half LIM domains 1
RGD ID: 1342641
HGNC Page HGNC
Description: Exhibits ion channel binding activity. Involved in several processes, including negative regulation of mitotic cell cycle phase transition; regulation of membrane depolarization; and regulation of potassium ion transport. Localizes to cytosol; nucleus; and plasma membrane. Implicated in Uruguay faciocardiomusculoskeletal syndrome; X-linked Emery-Dreifuss muscular dystrophy 6; reducing body myopathy 1A; and reducing body myopathy 1B. Biomarker of hypertrophic cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; four and a half LIM domains protein 1; four-and-a-half Lin11, Isl-1 and Mec-3 domains 1; KYOT; LIM protein SLIMMER; MGC111107; RBMX1A; RBMX1B; skeletal muscle LIM-protein 1; skeletal muscle LIM-protein1; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC008040.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX136,146,702 - 136,211,359 (+)EnsemblGRCh38hg38GRCh38
GRCh38X136,146,702 - 136,211,359 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X135,228,861 - 135,293,518 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,057,346 - 135,121,176 (+)NCBINCBI36hg18NCBI36
Build 34X134,955,199 - 135,019,028NCBI
CeleraX135,591,521 - 135,656,168 (+)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX124,502,588 - 124,565,831 (+)NCBIHuRef
CHM1_1X135,139,444 - 135,204,087 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
25-hydroxycholesterol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (ISO)
acrylamide  (ISO)
actinomycin D  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP,ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
brefeldin A  (ISO)
caffeine  (ISO)
capecitabine  (EXP)
carbofuran  (ISO)
carbon nanotube  (ISO)
chloroform  (ISO)
chloropicrin  (EXP)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP,ISO)
cumene  (ISO)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibenzo[a,l]pyrene  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxifluridine  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
etoposide  (EXP)
folic acid  (EXP,ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
isoprenaline  (EXP,ISO)
lead nitrate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
metaproterenol  (ISO)
methapyrilene  (ISO)
methoxyacetic acid  (ISO)
methylmercury chloride  (ISO)
milrinone  (ISO)
mitomycin C  (EXP)
mitoxantrone  (ISO)
Monobutylphthalate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP,ISO)
orciprenaline  (ISO)
oxaliplatin  (EXP,ISO)
ozone  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
quercetin  (ISO)
raloxifene  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of the voice  (IAGP)
Absent muscle fiber emerin  (IAGP)
Achilles tendon contracture  (IAGP)
Adult onset  (IAGP)
Areflexia  (IAGP)
Arrhythmia  (IAGP)
Asymmetric septal hypertrophy  (IAGP)
Atrioventricular block  (IAGP)
Back pain  (IAGP)
Brachyturricephaly  (IAGP)
Broad nail  (IAGP)
Broad palm  (IAGP)
Camptodactyly of toe  (IAGP)
Cardiomyopathy  (IAGP)
Congenital hip dislocation  (IAGP)
Decreased cervical spine flexion due to contractures of posterior cervical muscles  (IAGP)
Difficulty walking  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dislocation of toes  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated serum creatine kinase  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Everted lower lip vermilion  (IAGP)
Flexion contracture  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Hallux valgus  (IAGP)
Hyperlordosis  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Increased LDL cholesterol concentration  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Joint contracture of the hand  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Limb-girdle muscular dystrophy  (IAGP)
Limited elbow movement  (IAGP)
Lipodystrophy  (IAGP)
Low-set ears  (IAGP)
Lower limb muscle weakness  (IAGP)
Marked muscular hypertrophy  (IAGP)
Mitral regurgitation  (IAGP)
Muscle weakness  (IAGP)
Myofibrillar myopathy  (IAGP)
Myopathy  (IAGP)
Myotonia  (IAGP)
Obesity  (IAGP)
Pectus excavatum  (IAGP)
Posteriorly rotated ears  (IAGP)
Progressive  (IAGP)
Progressive pes cavus  (IAGP)
Prominent nose  (IAGP)
Prominent supraorbital ridges  (IAGP)
Proximal lower limb amyotrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Proximal upper limb amyotrophy  (IAGP)
Ptosis  (IAGP)
Pugilistic facies  (IAGP)
Rapidly progressive  (IAGP)
Reduced tendon reflexes  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Retrognathia  (IAGP)
Rimmed vacuoles  (IAGP)
Scapular winging  (IAGP)
Scapuloperoneal myopathy  (IAGP)
Scapuloperoneal weakness  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Short neck  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spinal rigidity  (IAGP)
Sprengel anomaly  (IAGP)
Steppage gait  (IAGP)
Sudden cardiac death  (IAGP)
Supraventricular arrhythmia  (IAGP)
Synophrys  (IAGP)
Toe walking  (IAGP)
Type 1 muscle fiber atrophy  (IAGP)
Ventricular escape rhythm  (IAGP)
Ventricular hypertrophy  (IAGP)
Vocal cord paralysis  (IAGP)
Waddling gait  (IAGP)
Wide nose  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7626119   PMID:8125298   PMID:8753811   PMID:9714789   PMID:9929984   PMID:10049693   PMID:10352231   PMID:10480922   PMID:10524257   PMID:11400158   PMID:12432079   PMID:12477932  
PMID:12665801   PMID:12917103   PMID:14702039   PMID:14999091   PMID:15489334   PMID:15610731   PMID:15710417   PMID:15772651   PMID:16196087   PMID:16344560   PMID:16407297   PMID:17589823  
PMID:18029348   PMID:18073142   PMID:18179888   PMID:18179901   PMID:18244901   PMID:18274675   PMID:18281375   PMID:18465173   PMID:18482256   PMID:18725486   PMID:18758158   PMID:19075112  
PMID:19139564   PMID:19171836   PMID:19181672   PMID:19401155   PMID:19687455   PMID:19716112   PMID:19850343   PMID:20186852   PMID:20301609   PMID:20301617   PMID:20301672   PMID:20571991  
PMID:20596604   PMID:20633900   PMID:20969868   PMID:21126853   PMID:21139048   PMID:21219870   PMID:21310615   PMID:21423176   PMID:21629301   PMID:21702045   PMID:21873635   PMID:21890473  
PMID:21900206   PMID:21987572   PMID:22053194   PMID:22094188   PMID:22094483   PMID:22143536   PMID:22219185   PMID:22266860   PMID:22379092   PMID:22412018   PMID:22523091   PMID:22541254  
PMID:22689052   PMID:22778266   PMID:22923418   PMID:23086815   PMID:23123766   PMID:23169582   PMID:23184937   PMID:23414517   PMID:23456229   PMID:23602568   PMID:23965743   PMID:23975679  
PMID:24114807   PMID:24516350   PMID:24634512   PMID:24816145   PMID:24952875   PMID:24999758   PMID:25272045   PMID:25305316   PMID:25609649   PMID:25695429   PMID:25724586   PMID:26017856  
PMID:26146054   PMID:26551678   PMID:26618866   PMID:26777405   PMID:26857240   PMID:26908444   PMID:26933038   PMID:27765816   PMID:27911330   PMID:27976729   PMID:28094252   PMID:28444561  
PMID:28489964   PMID:28671123   PMID:28712289   PMID:28718761   PMID:29434030   PMID:29656893   PMID:29872149   PMID:30073757   PMID:30249901   PMID:30379883   PMID:30585729   PMID:30948266  
PMID:31091453   PMID:31273321   PMID:31554973   PMID:31995728   PMID:32129710   PMID:32203420   PMID:33055253  


Genomics

Comparative Map Data
FHL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX136,146,702 - 136,211,359 (+)EnsemblGRCh38hg38GRCh38
GRCh38X136,146,702 - 136,211,359 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X135,228,861 - 135,293,518 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,057,346 - 135,121,176 (+)NCBINCBI36hg18NCBI36
Build 34X134,955,199 - 135,019,028NCBI
CeleraX135,591,521 - 135,656,168 (+)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX124,502,588 - 124,565,831 (+)NCBIHuRef
CHM1_1X135,139,444 - 135,204,087 (+)NCBICHM1_1
Fhl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X55,776,569 - 55,838,706 (+)NCBIGRCm39mm39
GRCm39 EnsemblX55,777,147 - 55,838,706 (+)Ensembl
GRCm38X56,731,209 - 56,793,346 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX56,731,787 - 56,793,346 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X53,984,964 - 54,046,523 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X53,078,598 - 53,140,127 (+)NCBImm8
CeleraX43,224,152 - 43,274,965 (+)NCBICelera
Cytogenetic MapXA6NCBI
Fhl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X134,555,399 - 134,614,930 (+)NCBI
Rnor_6.0 EnsemblX159,112,880 - 159,172,524 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X159,112,516 - 159,172,528 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X153,743,208 - 153,803,160 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X141,315,765 - 141,329,278 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X141,389,200 - 141,401,948 (+)NCBI
CeleraX142,605,050 - 142,663,917 (+)NCBICelera
Cytogenetic MapXq37NCBI
Fhl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554898,888,779 - 8,901,970 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554898,888,845 - 8,944,778 (-)NCBIChiLan1.0ChiLan1.0
FHL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X135,538,152 - 135,602,375 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX135,559,321 - 135,602,375 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X125,270,340 - 125,334,961 (+)NCBIMhudiblu_PPA_v0panPan3
FHL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X106,542,450 - 106,604,494 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX106,590,988 - 106,604,029 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX92,361,797 - 92,424,954 (+)NCBI
ROS_Cfam_1.0X108,518,918 - 108,582,088 (+)NCBI
UMICH_Zoey_3.1X105,662,634 - 105,725,800 (+)NCBI
UNSW_CanFamBas_1.0X107,839,961 - 107,904,929 (+)NCBI
UU_Cfam_GSD_1.0X107,494,648 - 107,557,811 (+)NCBI
Fhl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X104,530,356 - 104,588,870 (+)NCBI
SpeTri2.0NW_00493651311,025,753 - 11,064,312 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FHL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX111,310,684 - 111,367,904 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X111,309,989 - 111,367,900 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X127,231,947 - 127,289,864 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig CytomapXq23-q24NCBI
FHL1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X111,160,389 - 111,226,713 (+)NCBI
ChlSab1.1 EnsemblX111,211,911 - 111,226,841 (+)Ensembl
Fhl1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480810,924,606 - 10,984,422 (-)NCBI

Position Markers
G27965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,265,880 - 135,266,004UniSTSGRCh37
Build 36X135,093,546 - 135,093,670RGDNCBI36
CeleraX135,628,539 - 135,628,663RGD
Cytogenetic MapXq26UniSTS
HuRefX124,538,409 - 124,538,533UniSTS
WI-18109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,292,786 - 135,292,935UniSTSGRCh37
Build 36X135,120,452 - 135,120,601RGDNCBI36
CeleraX135,655,436 - 135,655,585RGD
Cytogenetic MapXq26UniSTS
HuRefX124,565,099 - 124,565,248UniSTS
GeneMap99-GB4 RH MapX320.11UniSTS
Whitehead-RH MapX302.1UniSTS
NCBI RH MapX685.3UniSTS
DXS6971E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,292,131 - 135,292,216UniSTSGRCh37
Build 36X135,119,797 - 135,119,882RGDNCBI36
CeleraX135,654,781 - 135,654,866RGD
Cytogenetic MapXq26UniSTS
HuRefX124,564,444 - 124,564,529UniSTS
GeneMap99-GB4 RH MapX320.11UniSTS
AL032580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,264,828 - 135,264,954UniSTSGRCh37
Build 36X135,092,494 - 135,092,620RGDNCBI36
CeleraX135,627,487 - 135,627,613RGD
Cytogenetic MapXq26UniSTS
HuRefX124,537,357 - 124,537,483UniSTS
DXS1322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,270,580 - 135,270,661UniSTSGRCh37
Build 36X135,098,246 - 135,098,327RGDNCBI36
CeleraX135,633,230 - 135,633,311RGD
Cytogenetic MapXq26UniSTS
HuRefX124,543,100 - 124,543,181UniSTS
D3S2774E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,293,286 - 135,293,435UniSTSGRCh37
GRCh373169,662,124 - 169,662,269UniSTSGRCh37
Build 36X135,120,952 - 135,121,101RGDNCBI36
CeleraX135,655,936 - 135,656,085RGD
Celera3168,061,429 - 168,061,574UniSTS
Cytogenetic MapXq26UniSTS
Cytogenetic Map3q26.2UniSTS
HuRefX124,565,599 - 124,565,748UniSTS
DXS7575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373169,662,120 - 169,662,248UniSTSGRCh37
GRCh37X135,293,306 - 135,293,439UniSTSGRCh37
Build 36X135,120,972 - 135,121,105RGDNCBI36
Celera3168,061,425 - 168,061,553UniSTS
CeleraX135,655,956 - 135,656,089RGD
Cytogenetic Map3q26.2UniSTS
Cytogenetic MapXq26UniSTS
HuRef3167,032,296 - 167,032,424UniSTS
HuRefX124,565,619 - 124,565,752UniSTS
G65664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,252,094 - 135,252,323UniSTSGRCh37
Build 36X135,079,760 - 135,079,989RGDNCBI36
CeleraX135,614,754 - 135,614,982RGD
Cytogenetic MapXq26UniSTS
HuRefX124,524,623 - 124,524,852UniSTS
FHL1_1806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,292,714 - 135,293,592UniSTSGRCh37
Build 36X135,120,380 - 135,121,258RGDNCBI36
CeleraX135,655,364 - 135,656,242RGD
HuRefX124,565,027 - 124,565,905UniSTS
SHGC-31168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,252,085 - 135,252,234UniSTSGRCh37
Build 36X135,079,751 - 135,079,900RGDNCBI36
CeleraX135,614,745 - 135,614,894RGD
Cytogenetic MapXq26UniSTS
HuRefX124,524,614 - 124,524,763UniSTS
TNG Radiation Hybrid MapX31072.0UniSTS
Stanford-G3 RH MapX4076.0UniSTS
GeneMap99-GB4 RH MapX319.49UniSTS
Whitehead-RH MapX302.1UniSTS
NCBI RH MapX701.5UniSTS
GeneMap99-G3 RH MapX4218.0UniSTS
SHGC-77523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373169,664,425 - 169,664,619UniSTSGRCh37
Build 363171,147,119 - 171,147,313RGDNCBI36
Celera3168,063,730 - 168,063,924RGD
Cytogenetic Map3q26.2UniSTS
Cytogenetic MapXq26UniSTS
HuRef3167,034,601 - 167,034,795UniSTS
TNG Radiation Hybrid Map326249.0UniSTS
GeneMap99-GB4 RH Map3628.46UniSTS
NCBI RH Map31496.8UniSTS
DXS7158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,293,249 - 135,293,508UniSTSGRCh37
Build 36X135,120,915 - 135,121,174RGDNCBI36
CeleraX135,655,899 - 135,656,158RGD
Cytogenetic MapXq26UniSTS
HuRefX124,565,562 - 124,565,821UniSTS
GeneMap99-GB4 RH MapX319.69UniSTS
Whitehead-RH MapX302.9UniSTS
NCBI RH MapX716.1UniSTS
A008Y44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,264,249 - 135,264,408UniSTSGRCh37
Build 36X135,091,915 - 135,092,074RGDNCBI36
CeleraX135,626,908 - 135,627,067RGD
Cytogenetic MapXq26UniSTS
HuRefX124,536,778 - 124,536,937UniSTS
GeneMap99-GB4 RH MapX319.59UniSTS
RH35898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,265,910 - 135,266,029UniSTSGRCh37
Build 36X135,093,576 - 135,093,695RGDNCBI36
CeleraX135,628,569 - 135,628,688RGD
Cytogenetic MapXq26UniSTS
HuRefX124,538,439 - 124,538,558UniSTS
GeneMap99-GB4 RH MapX319.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9434
Count of miRNA genes:1281
Interacting mature miRNAs:1645
Transcripts:ENST00000345434, ENST00000370674, ENST00000370676, ENST00000370683, ENST00000370690, ENST00000394153, ENST00000394155, ENST00000420362, ENST00000434885, ENST00000449474, ENST00000452016, ENST00000456445, ENST00000458357, ENST00000477080, ENST00000477204, ENST00000535737, ENST00000539015, ENST00000543669
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, 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
High 377 803 1 4 1 1212 1081 12 18 1 4 91 1135
Medium 1914 1444 1368 317 610 165 3088 1094 3676 311 1318 1454 155 1113 1651 1
Low 66 733 349 296 1123 293 48 17 31 91 102 113 12 1 2 1
Below cutoff 53 10 6 3 172 4 7 2 12 5 14 28 3 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF063002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF098518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF110763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF220153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL078638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL807743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC088369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE965488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM995585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA497183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA917361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA982372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC363191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC373304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC373386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U29538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370674   ⟹   ENSP00000359708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,204,721 - 136,209,954 (+)Ensembl
RefSeq Acc Id: ENST00000370676   ⟹   ENSP00000359710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,197,026 - 136,210,067 (+)Ensembl
RefSeq Acc Id: ENST00000370683   ⟹   ENSP00000359717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,197,047 - 136,211,354 (+)Ensembl
RefSeq Acc Id: ENST00000394153   ⟹   ENSP00000377709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,169,637 - 136,211,359 (+)Ensembl
RefSeq Acc Id: ENST00000394155   ⟹   ENSP00000377710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,147,533 - 136,211,354 (+)Ensembl
RefSeq Acc Id: ENST00000420362   ⟹   ENSP00000391779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,147,666 - 136,208,566 (+)Ensembl
RefSeq Acc Id: ENST00000434885   ⟹   ENSP00000413798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,168,194 - 136,208,575 (+)Ensembl
RefSeq Acc Id: ENST00000449474   ⟹   ENSP00000414604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,169,891 - 136,207,883 (+)Ensembl
RefSeq Acc Id: ENST00000452016   ⟹   ENSP00000408038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,167,004 - 136,208,575 (+)Ensembl
RefSeq Acc Id: ENST00000456445   ⟹   ENSP00000412642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,169,676 - 136,208,570 (+)Ensembl
RefSeq Acc Id: ENST00000458357   ⟹   ENSP00000389920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,148,083 - 136,207,925 (+)Ensembl
RefSeq Acc Id: ENST00000477080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,204,909 - 136,207,661 (+)Ensembl
RefSeq Acc Id: ENST00000477204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,197,063 - 136,207,551 (+)Ensembl
RefSeq Acc Id: ENST00000535737   ⟹   ENSP00000444815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,167,015 - 136,211,323 (+)Ensembl
RefSeq Acc Id: ENST00000539015   ⟹   ENSP00000437673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,196,757 - 136,211,359 (+)Ensembl
RefSeq Acc Id: ENST00000543669   ⟹   ENSP00000443333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,169,296 - 136,211,349 (+)Ensembl
RefSeq Acc Id: ENST00000618438   ⟹   ENSP00000477609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,147,536 - 136,211,354 (+)Ensembl
RefSeq Acc Id: ENST00000625935   ⟹   ENSP00000487360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,167,009 - 136,206,488 (+)Ensembl
RefSeq Acc Id: ENST00000626004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,207,396 - 136,209,335 (+)Ensembl
RefSeq Acc Id: ENST00000627383   ⟹   ENSP00000487318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,148,440 - 136,207,875 (+)Ensembl
RefSeq Acc Id: ENST00000627578   ⟹   ENSP00000486436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,147,533 - 136,207,918 (+)Ensembl
RefSeq Acc Id: ENST00000627812   ⟹   ENSP00000486134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,167,051 - 136,207,057 (+)Ensembl
RefSeq Acc Id: ENST00000628032   ⟹   ENSP00000487030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,169,839 - 136,208,478 (+)Ensembl
RefSeq Acc Id: ENST00000628443   ⟹   ENSP00000486631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,148,229 - 136,207,903 (+)Ensembl
RefSeq Acc Id: ENST00000628568   ⟹   ENSP00000486782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,206,102 - 136,211,354 (+)Ensembl
RefSeq Acc Id: ENST00000628919   ⟹   ENSP00000487147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,167,004 - 136,210,067 (+)Ensembl
RefSeq Acc Id: ENST00000629039   ⟹   ENSP00000486439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,146,702 - 136,210,272 (+)Ensembl
RefSeq Acc Id: ENST00000630084   ⟹   ENSP00000485897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,148,578 - 136,210,257 (+)Ensembl
RefSeq Acc Id: ENST00000630278   ⟹   ENSP00000487377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,167,004 - 136,207,093 (+)Ensembl
RefSeq Acc Id: ENST00000630677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,209,168 - 136,210,351 (+)Ensembl
RefSeq Acc Id: ENST00000630684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,197,053 - 136,208,482 (+)Ensembl
RefSeq Acc Id: ENST00000651089   ⟹   ENSP00000498684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,147,660 - 136,211,322 (+)Ensembl
RefSeq Acc Id: ENST00000651256   ⟹   ENSP00000499033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,168,194 - 136,206,542 (+)Ensembl
RefSeq Acc Id: ENST00000651929   ⟹   ENSP00000499016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,147,465 - 136,211,359 (+)Ensembl
RefSeq Acc Id: ENST00000652457   ⟹   ENSP00000498503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,147,533 - 136,211,298 (+)Ensembl
RefSeq Acc Id: ENST00000652745   ⟹   ENSP00000498581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,147,533 - 136,207,062 (+)Ensembl
RefSeq Acc Id: NM_001159699   ⟹   NP_001153171
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,197,047 - 136,211,354 (+)NCBI
GRCh37X135,228,861 - 135,293,518 (+)ENTREZGENE
HuRefX124,502,588 - 124,565,831 (+)ENTREZGENE
CHM1_1X135,189,626 - 135,204,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001159700   ⟹   NP_001153172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,148,559 - 136,211,354 (+)NCBI
GRCh37X135,228,861 - 135,293,518 (+)ENTREZGENE
HuRefX124,502,588 - 124,565,831 (+)ENTREZGENE
CHM1_1X135,141,328 - 135,204,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001159701   ⟹   NP_001153173
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,196,789 - 136,211,354 (+)NCBI
GRCh37X135,228,861 - 135,293,518 (+)ENTREZGENE
HuRefX124,502,588 - 124,565,831 (+)ENTREZGENE
CHM1_1X135,189,484 - 135,204,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001159702   ⟹   NP_001153174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,147,533 - 136,211,354 (+)NCBI
GRCh37X135,228,861 - 135,293,518 (+)ENTREZGENE
HuRefX124,502,588 - 124,565,831 (+)ENTREZGENE
CHM1_1X135,140,150 - 135,204,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001159703   ⟹   NP_001153175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,147,533 - 136,211,354 (+)NCBI
GRCh37X135,228,861 - 135,293,518 (+)ENTREZGENE
HuRefX124,502,588 - 124,565,831 (+)ENTREZGENE
CHM1_1X135,140,150 - 135,204,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001159704   ⟹   NP_001153176
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,169,296 - 136,211,359 (+)NCBI
GRCh37X135,228,861 - 135,293,518 (+)ENTREZGENE
HuRefX124,502,588 - 124,565,831 (+)ENTREZGENE
CHM1_1X135,162,048 - 135,204,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167819   ⟹   NP_001161291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,169,637 - 136,211,359 (+)NCBI
GRCh37X135,228,861 - 135,293,518 (+)ENTREZGENE
HuRefX124,502,588 - 124,565,831 (+)ENTREZGENE
CHM1_1X135,162,390 - 135,204,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330659   ⟹   NP_001317588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,197,047 - 136,211,354 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369326   ⟹   NP_001356255
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,147,652 - 136,211,354 (+)NCBI
RefSeq Acc Id: NM_001369327   ⟹   NP_001356256
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,148,083 - 136,211,354 (+)NCBI
RefSeq Acc Id: NM_001369328   ⟹   NP_001356257
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,169,630 - 136,211,354 (+)NCBI
RefSeq Acc Id: NM_001369329   ⟹   NP_001356258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,147,652 - 136,211,354 (+)NCBI
RefSeq Acc Id: NM_001369330   ⟹   NP_001356259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,148,465 - 136,211,354 (+)NCBI
RefSeq Acc Id: NM_001369331   ⟹   NP_001356260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,204,902 - 136,211,354 (+)NCBI
RefSeq Acc Id: NM_001449   ⟹   NP_001440
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,147,533 - 136,211,354 (+)NCBI
GRCh37X135,228,861 - 135,293,518 (+)ENTREZGENE
Build 36X135,057,346 - 135,121,176 (+)NCBI Archive
HuRefX124,502,588 - 124,565,831 (+)ENTREZGENE
CHM1_1X135,140,150 - 135,204,087 (+)NCBI
Sequence:
RefSeq Acc Id: NR_027621
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,146,702 - 136,211,354 (+)NCBI
GRCh37X135,228,861 - 135,293,518 (+)ENTREZGENE
HuRefX124,502,588 - 124,565,831 (+)ENTREZGENE
CHM1_1X135,139,444 - 135,204,087 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724743   ⟹   XP_006724806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,197,028 - 136,211,358 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724746   ⟹   XP_006724809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,204,899 - 136,211,358 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452354   ⟹   XP_024308122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,148,465 - 136,211,358 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001153171 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153172 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153173 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153174 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153175 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153176 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161291 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317588 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356255 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356256 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356257 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356258 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356259 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001440 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724806 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724809 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308122 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC35421 (Get FASTA)   NCBI Sequence Viewer  
  AAC50795 (Get FASTA)   NCBI Sequence Viewer  
  AAC52021 (Get FASTA)   NCBI Sequence Viewer  
  AAC72390 (Get FASTA)   NCBI Sequence Viewer  
  AAC72886 (Get FASTA)   NCBI Sequence Viewer  
  AAD21579 (Get FASTA)   NCBI Sequence Viewer  
  AAF32351 (Get FASTA)   NCBI Sequence Viewer  
  AAH10998 (Get FASTA)   NCBI Sequence Viewer  
  AAH88369 (Get FASTA)   NCBI Sequence Viewer  
  BAD97019 (Get FASTA)   NCBI Sequence Viewer  
  BAF82100 (Get FASTA)   NCBI Sequence Viewer  
  BAG52401 (Get FASTA)   NCBI Sequence Viewer  
  BAG53680 (Get FASTA)   NCBI Sequence Viewer  
  BAH12503 (Get FASTA)   NCBI Sequence Viewer  
  BAH13019 (Get FASTA)   NCBI Sequence Viewer  
  BAH13020 (Get FASTA)   NCBI Sequence Viewer  
  BAH13036 (Get FASTA)   NCBI Sequence Viewer  
  BAH13384 (Get FASTA)   NCBI Sequence Viewer  
  BAH13529 (Get FASTA)   NCBI Sequence Viewer  
  BAH14237 (Get FASTA)   NCBI Sequence Viewer  
  CAG33255 (Get FASTA)   NCBI Sequence Viewer  
  EAW88476 (Get FASTA)   NCBI Sequence Viewer  
  EAW88477 (Get FASTA)   NCBI Sequence Viewer  
  EAW88478 (Get FASTA)   NCBI Sequence Viewer  
  EAW88479 (Get FASTA)   NCBI Sequence Viewer  
  Q13642 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001153174   ⟸   NM_001159702
- Peptide Label: isoform 1
- UniProtKB: Q13642 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001440   ⟸   NM_001449
- Peptide Label: isoform 2
- UniProtKB: Q13642 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001153175   ⟸   NM_001159703
- Peptide Label: isoform 4
- UniProtKB: Q13642 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001153172   ⟸   NM_001159700
- Peptide Label: isoform 2
- UniProtKB: Q13642 (UniProtKB/Swiss-Prot),   B7Z9A1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153176   ⟸   NM_001159704
- Peptide Label: isoform 2
- UniProtKB: Q13642 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161291   ⟸   NM_001167819
- Peptide Label: isoform 2
- UniProtKB: Q13642 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001153173   ⟸   NM_001159701
- Peptide Label: isoform 3 precursor
- UniProtKB: Q13642 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001153171   ⟸   NM_001159699
- Peptide Label: isoform 5
- UniProtKB: Q13642 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724806   ⟸   XM_006724743
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006724809   ⟸   XM_006724746
- Peptide Label: isoform X2
- UniProtKB: Q13642 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308122   ⟸   XM_024452354
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001317588   ⟸   NM_001330659
- Peptide Label: isoform 6
- UniProtKB: Q5JXI2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001356255   ⟸   NM_001369326
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001356258   ⟸   NM_001369329
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001356256   ⟸   NM_001369327
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001356259   ⟸   NM_001369330
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001356257   ⟸   NM_001369328
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001356260   ⟸   NM_001369331
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000359717   ⟸   ENST00000370683
RefSeq Acc Id: ENSP00000359708   ⟸   ENST00000370674
RefSeq Acc Id: ENSP00000359710   ⟸   ENST00000370676
RefSeq Acc Id: ENSP00000443333   ⟸   ENST00000543669
RefSeq Acc Id: ENSP00000408038   ⟸   ENST00000452016
RefSeq Acc Id: ENSP00000487360   ⟸   ENST00000625935
RefSeq Acc Id: ENSP00000499016   ⟸   ENST00000651929
RefSeq Acc Id: ENSP00000499033   ⟸   ENST00000651256
RefSeq Acc Id: ENSP00000498684   ⟸   ENST00000651089
RefSeq Acc Id: ENSP00000486134   ⟸   ENST00000627812
RefSeq Acc Id: ENSP00000412642   ⟸   ENST00000456445
RefSeq Acc Id: ENSP00000498581   ⟸   ENST00000652745
RefSeq Acc Id: ENSP00000486436   ⟸   ENST00000627578
RefSeq Acc Id: ENSP00000498503   ⟸   ENST00000652457
RefSeq Acc Id: ENSP00000487318   ⟸   ENST00000627383
RefSeq Acc Id: ENSP00000487030   ⟸   ENST00000628032
RefSeq Acc Id: ENSP00000444815   ⟸   ENST00000535737
RefSeq Acc Id: ENSP00000486782   ⟸   ENST00000628568
RefSeq Acc Id: ENSP00000486631   ⟸   ENST00000628443
RefSeq Acc Id: ENSP00000487147   ⟸   ENST00000628919
RefSeq Acc Id: ENSP00000486439   ⟸   ENST00000629039
RefSeq Acc Id: ENSP00000389920   ⟸   ENST00000458357
RefSeq Acc Id: ENSP00000437673   ⟸   ENST00000539015
RefSeq Acc Id: ENSP00000477609   ⟸   ENST00000618438
RefSeq Acc Id: ENSP00000485897   ⟸   ENST00000630084
RefSeq Acc Id: ENSP00000487377   ⟸   ENST00000630278
RefSeq Acc Id: ENSP00000377710   ⟸   ENST00000394155
RefSeq Acc Id: ENSP00000377709   ⟸   ENST00000394153
RefSeq Acc Id: ENSP00000413798   ⟸   ENST00000434885
RefSeq Acc Id: ENSP00000391779   ⟸   ENST00000420362
RefSeq Acc Id: ENSP00000414604   ⟸   ENST00000449474
Protein Domains
LIM zinc-binding

Promoters
RGD ID:6808840
Promoter ID:HG_KWN:68188
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:NM_001159700,   NM_001159702,   NM_001159703,   NM_001449,   NR_027621,   OTTHUMT00000058465,   OTTHUMT00000058470,   UC004EZM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,056,951 - 135,057,451 (+)MPROMDB
RGD ID:6808839
Promoter ID:HG_KWN:68191
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001159704,   NM_001167819,   OTTHUMT00000058471,   OTTHUMT00000058472,   UC004EZO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,079,121 - 135,079,621 (+)MPROMDB
RGD ID:6808667
Promoter ID:HG_KWN:68193
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:ENST00000370674,   OTTHUMT00000058468
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,113,556 - 135,114,056 (+)MPROMDB
RGD ID:13628202
Promoter ID:EPDNEW_H29376
Type:initiation region
Name:FHL1_1
Description:four and a half LIM domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29377  EPDNEW_H29378  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,147,533 - 136,147,593EPDNEW
RGD ID:13628204
Promoter ID:EPDNEW_H29377
Type:initiation region
Name:FHL1_3
Description:four and a half LIM domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29376  EPDNEW_H29378  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,169,839 - 136,169,899EPDNEW
RGD ID:13628208
Promoter ID:EPDNEW_H29378
Type:multiple initiation site
Name:FHL1_2
Description:four and a half LIM domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29376  EPDNEW_H29377  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,204,904 - 136,204,964EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001159699.2(FHL1):c.243C>T (p.Cys81=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000548736] ChrX:136207054 [GRCh38]
ChrX:135289213 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.428_430dup (p.Thr144_Cys145insIle) duplication Myopathy with postural muscle atrophy, X-linked [RCV000012305]|Scapuloperoneal myopathy, X-linked dominant [RCV000022828] ChrX:136207839..136207840 [GRCh38]
ChrX:135289998..135289999 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.865dup (p.Cys289fs) duplication Emery-Dreifuss muscular dystrophy 6 [RCV000012314] ChrX:136209997..136209998 [GRCh38]
ChrX:135292156..135292157 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.736+1G>A single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000012316] ChrX:136208642 [GRCh38]
ChrX:135290801 [GRCh37]
ChrX:Xq26.3
pathogenic
FHL1, 9-BP DEL, NT451 deletion Myopathy, reducing body, X-linked, childhood-onset [RCV000012319] ChrX:Xq27.2 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
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) single nucleotide variant Scapuloperoneal myopathy, X-linked dominant [RCV000012303] ChrX:136207825 [GRCh38]
ChrX:135289984 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000012304]|not provided [RCV000725941] ChrX:136208625 [GRCh38]
ChrX:135290784 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_001159699.2(FHL1):c.415C>T (p.His139Tyr) single nucleotide variant Myopathy, reducing body, X-linked, early-onset, severe [RCV000012306] ChrX:136207827 [GRCh38]
ChrX:135289986 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.443G>T (p.Cys148Phe) single nucleotide variant Myopathy, reducing body, X-linked, early-onset, severe [RCV000012307] ChrX:136207855 [GRCh38]
ChrX:135290014 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg) single nucleotide variant Myopathy, reducing body, X-linked, childhood-onset [RCV000012308] ChrX:136207917 [GRCh38]
ChrX:135290076 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr) single nucleotide variant Myopathy, reducing body, X-linked, childhood-onset [RCV000012309] ChrX:136207918 [GRCh38]
ChrX:135290077 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr) single nucleotide variant Myopathy, reducing body, X-linked, early-onset, severe [RCV000012310] ChrX:136207909 [GRCh38]
ChrX:135290068 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.358T>C (p.Cys120Arg) single nucleotide variant Myopathy, reducing body, X-linked, childhood-onset [RCV000012311] ChrX:136207169 [GRCh38]
ChrX:135289328 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu) single nucleotide variant Emery-Dreifuss muscular dystrophy 6 [RCV000012312] ChrX:136210023 [GRCh38]
ChrX:135292182 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg) single nucleotide variant Emery-Dreifuss muscular dystrophy 6 [RCV000012313] ChrX:136208578 [GRCh38]
ChrX:135290737 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.737-479G>A single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000012315] ChrX:136209392 [GRCh38]
ChrX:135291551 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.416A>T (p.His139Leu) single nucleotide variant Myopathy, reducing body, X-linked, early-onset, severe [RCV000012317] ChrX:136207828 [GRCh38]
ChrX:135289987 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.417C>G (p.His139Gln) single nucleotide variant Myopathy, reducing body, X-linked, early-onset, severe [RCV000012318] ChrX:136207829 [GRCh38]
ChrX:135289988 [GRCh37]
ChrX:Xq26.3
pathogenic
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 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 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 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(chrX:136121668-136310367)x1 copy number loss See cases [RCV000051731] ChrX:136121668..136310367 [GRCh38]
ChrX:135203827..135392526 [GRCh37]
ChrX:135031493..135220192 [NCBI36]
ChrX:Xq26.3
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: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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 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 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 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 Xq26.3(chrX:136005008-136665975)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054250]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054250]|See cases [RCV000054250] ChrX:136005008..136665975 [GRCh38]
ChrX:135196639..135748134 [GRCh37]
ChrX:134914833..135575800 [NCBI36]
ChrX:Xq26.3
uncertain significance
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_001159699.2(FHL1):c.737-13T>C single nucleotide variant none provided [RCV001282536]|not specified [RCV000179822] ChrX:136209858 [GRCh38]
ChrX:135292017 [GRCh37]
ChrX:Xq26.3
benign
NM_001159699.2(FHL1):c.737-3del deletion Myopathy with postural muscle atrophy, X-linked [RCV000230834]|not specified [RCV000179823] ChrX:136209863 [GRCh38]
ChrX:135292022 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_001159699.2(FHL1):c.737-8C>T single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000576703]|not specified [RCV000179824] ChrX:136209863 [GRCh38]
ChrX:135292022 [GRCh37]
ChrX:Xq26.3
benign
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: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 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 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 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 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: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 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 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 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 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 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 Xq26.3(chrX:136145095-136556106)x3 copy number gain See cases [RCV000137022] ChrX:136145095..136556106 [GRCh38]
ChrX:135227254..135638265 [GRCh37]
ChrX:135054920..135465931 [NCBI36]
ChrX:Xq26.3
uncertain significance
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 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 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 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 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 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 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 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
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 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
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 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 Xq21.31-28(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 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 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 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 Xq26.2-26.3(chrX:133532321-137519462)x2 copy number gain See cases [RCV000140818] ChrX:133532321..137519462 [GRCh38]
ChrX:132666349..136601621 [GRCh37]
ChrX:132494015..136429287 [NCBI36]
ChrX:Xq26.2-26.3
likely 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 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 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
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 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
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
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000467484]|not provided [RCV000179825] ChrX:136209921 [GRCh38]
ChrX:135292080 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-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:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
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
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000822468]|Primary familial hypertrophic cardiomyopathy [RCV000208197]|not provided [RCV000263325] ChrX:136209946 [GRCh38]
ChrX:135292105 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic|uncertain significance
NM_001159699.2(FHL1):c.813C>G (p.Cys271Trp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000208453] ChrX:136209947 [GRCh38]
ChrX:135292106 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr) single nucleotide variant Inborn genetic diseases [RCV000623533]|Myopathy with postural muscle atrophy, X-linked [RCV000686661]|Primary familial hypertrophic cardiomyopathy [RCV000208015] ChrX:136207151 [GRCh38]
ChrX:135289310 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000230448] ChrX:136207848 [GRCh38]
ChrX:135290007 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.204+5C>T single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001082220]|not provided [RCV000231045]|not specified [RCV000429398] ChrX:136206593 [GRCh38]
ChrX:135288752 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001449.4(FHL1):c.689-8delC deletion Myopathy with postural muscle atrophy, X-linked [RCV000230834] ChrX:136209863 [GRCh38]
ChrX:135292022 [GRCh37]
ChrX:Xq26.3
benign
NM_001449.4(FHL1):c.157-?_*1334+?dup duplication Myopathy with postural muscle atrophy, X-linked [RCV000232791]   uncertain significance
NM_001159699.2(FHL1):c.786C>T (p.His262=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000233697]|not specified [RCV000354542] ChrX:136209920 [GRCh38]
ChrX:135292079 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000234296]|not specified [RCV000244038] ChrX:136207901 [GRCh38]
ChrX:135290060 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000227615]|not specified [RCV000602543] ChrX:136207142 [GRCh38]
ChrX:135289301 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_001159699.2(FHL1):c.534C>T (p.Cys178=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000228144] ChrX:136207946 [GRCh38]
ChrX:135290105 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000228514]|none provided [RCV001282552]|not provided [RCV000991990]|not specified [RCV000296313] ChrX:136210005 [GRCh38]
ChrX:135292164 [GRCh37]
ChrX:Xq26.3
likely pathogenic|benign
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:71267-155224766)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_001159699.2(FHL1):c.549+5G>A single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001064601]|not specified [RCV000604372] ChrX:136207966 [GRCh38]
ChrX:135290125 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
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: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 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_001159699.2(FHL1):c.644G>A (p.Arg215His) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001351448]|not provided [RCV000271938] ChrX:136208549 [GRCh38]
ChrX:135290708 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.456C>T (p.Ile152=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001088042]|not provided [RCV000725851]|not specified [RCV000307024] ChrX:136207868 [GRCh38]
ChrX:135290027 [GRCh37]
ChrX:Xq26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001159699.2(FHL1):c.161A>G (p.Asn54Ser) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001202211]|not provided [RCV000343087] ChrX:136206545 [GRCh38]
ChrX:135288704 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter) single nucleotide variant not provided [RCV000432968] ChrX:136207072 [GRCh38]
ChrX:135289231 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_001159699.2(FHL1):c.736+610A>G single nucleotide variant not provided [RCV000310731] ChrX:136209251 [GRCh38]
ChrX:135291410 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001323432]|not provided [RCV000381294] ChrX:136207113 [GRCh38]
ChrX:135289272 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159702.2(FHL1):c.889-9delT deletion not provided [RCV000279253] ChrX:136209854 [GRCh38]
ChrX:135292021 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.408C>T (p.Thr136=) single nucleotide variant not provided [RCV000311913] ChrX:136207820 [GRCh38]
ChrX:135289979 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.498C>T (p.Cys166=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001085065]|not provided [RCV000839584]|not specified [RCV000389575] ChrX:136207910 [GRCh38]
ChrX:135290069 [GRCh37]
ChrX:Xq26.3
benign
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000471911]|not provided [RCV000355754] ChrX:136206437 [GRCh38]
ChrX:135288596 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001449.4(FHL1):c.689-9dupT duplication not specified [RCV000289302] ChrX:136209853..136209854 [GRCh38]
ChrX:135292021 [GRCh37]
ChrX:Xq26.3
benign
NM_001159699.2(FHL1):c.737-550C>T single nucleotide variant not provided [RCV000358735] ChrX:136209321 [GRCh38]
ChrX:135291480 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.737-550_737-549delinsTC indel not provided [RCV000360521] ChrX:136209321..136209322 [GRCh38]
ChrX:135291480..135291481 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000537056]|not provided [RCV000292612] ChrX:136207946 [GRCh38]
ChrX:135290105 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001210133]|not provided [RCV000725586]|not specified [RCV000396680] ChrX:136207821 [GRCh38]
ChrX:135289980 [GRCh37]
ChrX:Xq26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001159699.2(FHL1):c.114G>A (p.Lys38=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000547819]|not specified [RCV000330640] ChrX:136206498 [GRCh38]
ChrX:135288657 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001159699.2(FHL1):c.737-557C>T single nucleotide variant not provided [RCV000402513] ChrX:136209314 [GRCh38]
ChrX:135291473 [GRCh37]
ChrX:Xq26.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001159699.2(FHL1):c.861G>T (p.Val287=) single nucleotide variant not provided [RCV000300898] ChrX:136209995 [GRCh38]
ChrX:135292154 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.404G>T (p.Gly135Val) single nucleotide variant not provided [RCV000416277] ChrX:136207816 [GRCh38]
ChrX:135289975 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.494_496del (p.Tyr165del) deletion not provided [RCV000408148] ChrX:136207904..136207906 [GRCh38]
ChrX:135290063..135290065 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.593A>G (p.His198Arg) single nucleotide variant not provided [RCV000490225] ChrX:136208498 [GRCh38]
ChrX:135290657 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.550-2A>G single nucleotide variant Uruguay faciocardiomusculoskeletal syndrome [RCV000515100] ChrX:136208453 [GRCh38]
ChrX:135290612 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.737-521C>T single nucleotide variant not provided [RCV000594478] ChrX:136209350 [GRCh38]
ChrX:135291509 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.88T>C (p.Leu30=) single nucleotide variant not provided [RCV000594569] ChrX:136206472 [GRCh38]
ChrX:135288631 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.737-5C>A single nucleotide variant not provided [RCV000956343]|not specified [RCV000605419] ChrX:136209866 [GRCh38]
ChrX:135292025 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001247631]|not provided [RCV000592313] ChrX:136207826 [GRCh38]
ChrX:135289985 [GRCh37]
ChrX:Xq26.3
pathogenic|uncertain significance
NM_001159699.2(FHL1):c.422A>G (p.Asp141Gly) single nucleotide variant not provided [RCV000592830] ChrX:136207834 [GRCh38]
ChrX:135289993 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159702.3(FHL1):c.-101+3A>G single nucleotide variant not provided [RCV000578627] ChrX:136147631 [GRCh38]
ChrX:135229790 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.356G>T (p.Gly119Val) single nucleotide variant not provided [RCV000593287] ChrX:136207167 [GRCh38]
ChrX:135289326 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.736+596C>T single nucleotide variant not provided [RCV000730057] ChrX:136209237 [GRCh38]
ChrX:135291396 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.809A>G (p.Lys270Arg) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000526118] ChrX:136209943 [GRCh38]
ChrX:135292102 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs) deletion Myopathy with postural muscle atrophy, X-linked [RCV000526868] ChrX:136207878..136207882 [GRCh38]
ChrX:135290037..135290041 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs) duplication Myopathy with postural muscle atrophy, X-linked [RCV001219315]|not provided [RCV000734761] ChrX:136209971..136209972 [GRCh38]
ChrX:135292130..135292131 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_001159699.2(FHL1):c.785_793dup (p.Cys265_Phe266insTyrAspTyr) duplication not provided [RCV000734167] ChrX:136209918..136209919 [GRCh38]
ChrX:135292077..135292078 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.189C>T (p.Ile63=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000537943] ChrX:136206573 [GRCh38]
ChrX:135288732 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.529C>T (p.His177Tyr) single nucleotide variant not provided [RCV000734879] ChrX:136207941 [GRCh38]
ChrX:135290100 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.737-572G>A single nucleotide variant not provided [RCV000730951] ChrX:136209299 [GRCh38]
ChrX:135291458 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.447G>A (p.Lys149=) single nucleotide variant not provided [RCV000734978] ChrX:136207859 [GRCh38]
ChrX:135290018 [GRCh37]
ChrX:Xq26.3
conflicting interpretations of pathogenicity|uncertain significance
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 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001159699.2(FHL1):c.737-520G>A single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000696108]|not provided [RCV000420669] ChrX:136209351 [GRCh38]
ChrX:135291510 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.519G>A (p.Lys173=) single nucleotide variant not specified [RCV000441408] ChrX:136207931 [GRCh38]
ChrX:135290090 [GRCh37]
ChrX:Xq26.3
likely benign
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 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001159699.2(FHL1):c.737-9T>C single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000466381]|not specified [RCV000421243] ChrX:136209862 [GRCh38]
ChrX:135292021 [GRCh37]
ChrX:Xq26.3
benign|likely benign
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000950590]|not specified [RCV000435804] ChrX:136209926 [GRCh38]
ChrX:135292085 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.651C>T (p.Thr217=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000867228]|not specified [RCV000425532] ChrX:136208556 [GRCh38]
ChrX:135290715 [GRCh37]
ChrX:Xq26.3
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_001159699.2(FHL1):c.736+18T>C single nucleotide variant not specified [RCV000443806] ChrX:136208659 [GRCh38]
ChrX:135290818 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.789C>T (p.Asp263=) single nucleotide variant not specified [RCV000426494] ChrX:136209923 [GRCh38]
ChrX:135292082 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159702.3(FHL1):c.-101+10C>G single nucleotide variant not specified [RCV000423445] ChrX:136147638 [GRCh38]
ChrX:135229797 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.23-5C>T single nucleotide variant not specified [RCV000441198] ChrX:136206402 [GRCh38]
ChrX:135288561 [GRCh37]
ChrX:Xq26.3
benign
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 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:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001159699.2(FHL1):c.612T>C (p.Cys204=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000471570] ChrX:136208517 [GRCh38]
ChrX:135290676 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.729C>G (p.Pro243=) single nucleotide variant not provided [RCV000476855] ChrX:136208634 [GRCh38]
ChrX:135290793 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.525del (p.Lys176fs) deletion not provided [RCV000479357] ChrX:136207936 [GRCh38]
ChrX:135290095 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup) duplication Myopathy with postural muscle atrophy, X-linked [RCV000462272] ChrX:136207892..136207893 [GRCh38]
ChrX:135290051..135290052 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.108del (p.Gln37fs) deletion Myopathy with postural muscle atrophy, X-linked [RCV000477392] ChrX:136206492 [GRCh38]
ChrX:135288651 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001159699.2(FHL1):c.536T>G (p.Val179Gly) single nucleotide variant not provided [RCV000498044] ChrX:136207948 [GRCh38]
ChrX:135290107 [GRCh37]
ChrX:Xq26.3
uncertain significance
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
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 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001159699.2(FHL1):c.537G>C (p.Val179=) single nucleotide variant not specified [RCV000604836] ChrX:136207949 [GRCh38]
ChrX:135290108 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.223C>T (p.Arg75Cys) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000646183] ChrX:136207034 [GRCh38]
ChrX:135289193 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.416A>G (p.His139Arg) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000646184] ChrX:136207828 [GRCh38]
ChrX:135289987 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000646185] ChrX:136207064 [GRCh38]
ChrX:135289223 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.300CAA[1] (p.Asn101del) microsatellite Myopathy with postural muscle atrophy, X-linked [RCV000646186] ChrX:136207110..136207112 [GRCh38]
ChrX:135289269..135289271 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.360dup (p.Phe121fs) duplication Myopathy with postural muscle atrophy, X-linked [RCV000646187] ChrX:136207170..136207171 [GRCh38]
ChrX:135289329..135289330 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.874T>A (p.Cys292Ser) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000646188] ChrX:136210008 [GRCh38]
ChrX:135292167 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.737-10T>C single nucleotide variant not provided [RCV000646189] ChrX:136209861 [GRCh38]
ChrX:135292020 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.737-603C>T single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000646191] ChrX:136209268 [GRCh38]
ChrX:135291427 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.737-11_737-8del deletion not provided [RCV000646193] ChrX:136209860..136209863 [GRCh38]
ChrX:135292019..135292022 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159702.3(FHL1):c.-33G>C single nucleotide variant not specified [RCV000615731] ChrX:136169974 [GRCh38]
ChrX:135252133 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159702.3(FHL1):c.-108C>T single nucleotide variant not specified [RCV000612700] ChrX:136147621 [GRCh38]
ChrX:135229780 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.179G>A (p.Arg60His) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001237713]|not specified [RCV000615985] ChrX:136206563 [GRCh38]
ChrX:135288722 [GRCh37]
ChrX:Xq26.3
likely benign|uncertain significance
NM_001159699.2(FHL1):c.549+7T>G single nucleotide variant not specified [RCV000607408] ChrX:136207968 [GRCh38]
ChrX:135290127 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.618C>G (p.Thr206=) single nucleotide variant not specified [RCV000610405] ChrX:136208523 [GRCh38]
ChrX:135290682 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.550-15C>A single nucleotide variant not specified [RCV000613463] ChrX:136208440 [GRCh38]
ChrX:135290599 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.205-9G>C single nucleotide variant not specified [RCV000616805] ChrX:136207007 [GRCh38]
ChrX:135289166 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.736+8A>G single nucleotide variant not provided [RCV000938191]|not specified [RCV000610939] ChrX:136208649 [GRCh38]
ChrX:135290808 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.855G>A (p.Glu285=) single nucleotide variant not specified [RCV000608578] ChrX:136209989 [GRCh38]
ChrX:135292148 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159702.3(FHL1):c.-109C>A single nucleotide variant not specified [RCV000614687] ChrX:136147620 [GRCh38]
ChrX:135229779 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.736+14T>C single nucleotide variant not specified [RCV000604086] ChrX:136208655 [GRCh38]
ChrX:135290814 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.786C>A (p.His262Gln) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000646179] ChrX:136209920 [GRCh38]
ChrX:135292079 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.852G>C (p.Gln284His) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000646180] ChrX:136209986 [GRCh38]
ChrX:135292145 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.505T>G (p.Cys169Gly) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000646181]|not provided [RCV000733318] ChrX:136207917 [GRCh38]
ChrX:135290076 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.661dup (p.Asp221fs) duplication Myopathy with postural muscle atrophy, X-linked [RCV000646182] ChrX:136208564..136208565 [GRCh38]
ChrX:135290723..135290724 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_001159699.2(FHL1):c.204+6G>A single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000646190] ChrX:136206594 [GRCh38]
ChrX:135288753 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.168T>C (p.Cys56=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000646194] ChrX:136206552 [GRCh38]
ChrX:135288711 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159702.3(FHL1):c.-27+17G>T single nucleotide variant not specified [RCV000607618] ChrX:136169997 [GRCh38]
ChrX:135252156 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.737-14T>C single nucleotide variant not specified [RCV000599809] ChrX:136209857 [GRCh38]
ChrX:135292016 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_001159699.2(FHL1):c.225C>A (p.Arg75=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000863467]|none provided [RCV001284908]|not specified [RCV000597680] ChrX:136207036 [GRCh38]
ChrX:135289195 [GRCh37]
ChrX:Xq26.3
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
NM_001159699.2(FHL1):c.499G>A (p.Val167Met) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000661929] ChrX:136207911 [GRCh38]
ChrX:135290070 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000707679]|not provided [RCV000658161] ChrX:136206551 [GRCh38]
ChrX:135288710 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
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 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_001159699.2(FHL1):c.856C>G (p.Gln286Glu) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000685283] ChrX:136209990 [GRCh38]
ChrX:135292149 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.613_614del (p.Val205fs) microsatellite Myopathy with postural muscle atrophy, X-linked [RCV000700709] ChrX:136208511..136208512 [GRCh38]
ChrX:135290670..135290671 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000694773] ChrX:136207171 [GRCh38]
ChrX:135289330 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.623C>G (p.Ser208Cys) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000693076] ChrX:136208528 [GRCh38]
ChrX:135290687 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.812G>A (p.Cys271Tyr) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000705293] ChrX:136209946 [GRCh38]
ChrX:135292105 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.811T>C (p.Cys271Arg) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000691527] ChrX:136209945 [GRCh38]
ChrX:135292104 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000689203]|Scapuloperoneal myopathy, X-linked dominant [RCV001336373] ChrX:136209928 [GRCh38]
ChrX:135292087 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.121C>T (p.His41Tyr) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000685448] ChrX:136206505 [GRCh38]
ChrX:135288664 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.703AAG[3] (p.Lys236dup) microsatellite Myopathy with postural muscle atrophy, X-linked [RCV000703708] ChrX:136208607..136208608 [GRCh38]
ChrX:135290766..135290767 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.817G>A (p.Val273Met) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000689527] ChrX:136209951 [GRCh38]
ChrX:135292110 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.424T>C (p.Cys142Arg) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000704296] ChrX:136207836 [GRCh38]
ChrX:135289995 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs) duplication Myopathy with postural muscle atrophy, X-linked [RCV000690655]|not provided [RCV000991988] ChrX:136207816..136207817 [GRCh38]
ChrX:135289975..135289976 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.784C>T (p.His262Tyr) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000695806] ChrX:136209918 [GRCh38]
ChrX:135292077 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.239C>T (p.Thr80Ile) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000705173] ChrX:136207050 [GRCh38]
ChrX:135289209 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.803G>A (p.Cys268Tyr) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000701066] ChrX:136209937 [GRCh38]
ChrX:135292096 [GRCh37]
ChrX:Xq26.3
uncertain significance
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: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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001159702.3(FHL1):c.-26-9547G>A single nucleotide variant none provided [RCV001286402] ChrX:136196860 [GRCh38]
ChrX:135279019 [GRCh37]
ChrX:Xq26.3
likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001159699.2(FHL1):c.891A>C (p.Ter297Tyr) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001044959] ChrX:136210025 [GRCh38]
ChrX:135292184 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.696T>C (p.Phe232=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000868424] ChrX:136208601 [GRCh38]
ChrX:135290760 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.510T>C (p.His170=) single nucleotide variant not provided [RCV000868408] ChrX:136207922 [GRCh38]
ChrX:135290081 [GRCh37]
ChrX:Xq26.3
likely benign
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_001159699.2(FHL1):c.736+2T>G single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001056132] ChrX:136208643 [GRCh38]
ChrX:135290802 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_001159699.2(FHL1):c.211C>T (p.His71Tyr) single nucleotide variant Muscle weakness [RCV000856703] ChrX:136207022 [GRCh38]
ChrX:135289181 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.137A>G (p.Lys46Arg) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001069701] ChrX:136206521 [GRCh38]
ChrX:135288680 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs) duplication Myopathy with postural muscle atrophy, X-linked [RCV001048084] ChrX:136208547..136208548 [GRCh38]
ChrX:135290706..135290707 [GRCh37]
ChrX:Xq26.3
pathogenic
NC_000023.11:g.(?_136209233)_(136211369_?)del deletion Myopathy with postural muscle atrophy, X-linked [RCV001033787] ChrX:135291392..135293528 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.322T>A (p.Cys108Ser) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001038116] ChrX:136207133 [GRCh38]
ChrX:135289292 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.248G>A (p.Arg83His) single nucleotide variant not provided [RCV000996022] ChrX:136207059 [GRCh38]
ChrX:135289218 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.551C>T (p.Ala184Val) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001243709]|not provided [RCV000996024] ChrX:136208456 [GRCh38]
ChrX:135290615 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.737-12_737-8del deletion not provided [RCV000996025] ChrX:136209859..136209863 [GRCh38]
ChrX:135292018..135292022 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001040158] ChrX:136207050 [GRCh38]
ChrX:135289209 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_001159699.2(FHL1):c.834G>A (p.Lys278=) single nucleotide variant not provided [RCV000876781] ChrX:136209968 [GRCh38]
ChrX:135292127 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.737-9_737-8delinsCT indel not provided [RCV000920060] ChrX:136209862..136209863 [GRCh38]
ChrX:135292021..135292022 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.135G>A (p.Leu45=) single nucleotide variant not provided [RCV000932630] ChrX:136206519 [GRCh38]
ChrX:135288678 [GRCh37]
ChrX:Xq26.3
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001159699.2(FHL1):c.205-57C>T single nucleotide variant not provided [RCV000839524] ChrX:136206959 [GRCh38]
ChrX:135289118 [GRCh37]
ChrX:Xq26.3
benign
NM_001159699.2(FHL1):c.669T>C (p.Tyr223=) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000936126] ChrX:136208574 [GRCh38]
ChrX:135290733 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.549+130G>A single nucleotide variant not provided [RCV000839921] ChrX:136208091 [GRCh38]
ChrX:135290250 [GRCh37]
ChrX:Xq26.3
benign
NM_001159699.2(FHL1):c.380-7T>C single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001088691]|not provided [RCV000840166] ChrX:136207785 [GRCh38]
ChrX:135289944 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.432C>T (p.Thr144=) single nucleotide variant not provided [RCV000976266] ChrX:136207844 [GRCh38]
ChrX:135290003 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.737-2dup duplication Myopathy with postural muscle atrophy, X-linked [RCV000802784] ChrX:136209868..136209869 [GRCh38]
ChrX:135292027..135292028 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.380-73G>C single nucleotide variant not provided [RCV000838643] ChrX:136207719 [GRCh38]
ChrX:135289878 [GRCh37]
ChrX:Xq26.3
benign
NM_001159699.2(FHL1):c.380-49C>T single nucleotide variant not provided [RCV000838644] ChrX:136207743 [GRCh38]
ChrX:135289902 [GRCh37]
ChrX:Xq26.3
benign
NM_001159699.2(FHL1):c.215A>G (p.Tyr72Cys) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000805795] ChrX:136207026 [GRCh38]
ChrX:135289185 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.549+64C>T single nucleotide variant not provided [RCV000833810] ChrX:136208025 [GRCh38]
ChrX:135290184 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_001159699.2(FHL1):c.866G>C (p.Cys289Ser) single nucleotide variant not provided [RCV000788586] ChrX:136210000 [GRCh38]
ChrX:135292159 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.148A>G (p.Lys50Glu) single nucleotide variant not provided [RCV000788887] ChrX:136206532 [GRCh38]
ChrX:135288691 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.427T>C (p.Phe143Leu) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000800282] ChrX:136207839 [GRCh38]
ChrX:135289998 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.284C>A (p.Thr95Asn) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000816802] ChrX:136207095 [GRCh38]
ChrX:135289254 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.23-282A>G single nucleotide variant not provided [RCV000828602] ChrX:136206125 [GRCh38]
ChrX:135288284 [GRCh37]
ChrX:Xq26.3
benign
NM_001159699.2(FHL1):c.576C>A (p.Tyr192Ter) single nucleotide variant not provided [RCV000788940] ChrX:136208481 [GRCh38]
ChrX:135290640 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs) duplication Myopathy with postural muscle atrophy, X-linked [RCV000797344] ChrX:136208574..136208575 [GRCh38]
ChrX:135290733..135290734 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000823871] ChrX:136206443 [GRCh38]
ChrX:135288602 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000801731]|not provided [RCV000996023] ChrX:136207812 [GRCh38]
ChrX:135289971 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.278A>G (p.Asn93Ser) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV000818245] ChrX:136207089 [GRCh38]
ChrX:135289248 [GRCh37]
ChrX:Xq26.3
uncertain significance
NC_000023.10:g.(?_135288556)_(135293528_?)dup duplication Myopathy with postural muscle atrophy, X-linked [RCV000798149] ChrX:136206397..136211369 [GRCh38]
ChrX:135288556..135293528 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.549G>C (p.Lys183Asn) single nucleotide variant Hypertrophic cardiomyopathy [RCV000850346] ChrX:136207961 [GRCh38]
ChrX:135290120 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter) single nucleotide variant not provided [RCV000991989] ChrX:136208545 [GRCh38]
ChrX:135290704 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq26.3(chrX:135081343-135627105)x3 copy number gain not provided [RCV000849676] ChrX:135081343..135627105 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
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
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) single nucleotide variant Myopathy, reducing body, X-linked, childhood-onset [RCV000850501] ChrX:136207908 [GRCh38]
ChrX:135290067 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs) deletion Myopathy with postural muscle atrophy, X-linked [RCV001211121] ChrX:136207830..136207831 [GRCh38]
ChrX:135289989..135289990 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001046347] ChrX:136207825 [GRCh38]
ChrX:135289984 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001159699.2(FHL1):c.205-1G>A single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001242022] ChrX:136207015 [GRCh38]
ChrX:135289174 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_001159699.2(FHL1):c.725A>G (p.Asn242Ser) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001235773] ChrX:136208630 [GRCh38]
ChrX:135290789 [GRCh37]
ChrX:Xq26.3
uncertain significance
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:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001159699.2(FHL1):c.737-599C>T single nucleotide variant not provided [RCV000977552] ChrX:136209272 [GRCh38]
ChrX:135291431 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.60G>A (p.Lys20=) single nucleotide variant not provided [RCV000938335] ChrX:136206444 [GRCh38]
ChrX:135288603 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.68G>T (p.Cys23Phe) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001209274] ChrX:136206452 [GRCh38]
ChrX:135288611 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.110A>G (p.Gln37Arg) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001220807] ChrX:136206494 [GRCh38]
ChrX:135288653 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.404G>C (p.Gly135Ala) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001229189] ChrX:136207816 [GRCh38]
ChrX:135289975 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.868C>T (p.Pro290Ser) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001206223] ChrX:136210002 [GRCh38]
ChrX:135292161 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.379+8C>T single nucleotide variant not provided [RCV000913943] ChrX:136207198 [GRCh38]
ChrX:135289357 [GRCh37]
ChrX:Xq26.3
likely benign
NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys) single nucleotide variant Scapuloperoneal myopathy, X-linked dominant [RCV001007860] ChrX:136206413 [GRCh38]
ChrX:135288572 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.545A>G (p.Asn182Ser) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001205171] ChrX:136207957 [GRCh38]
ChrX:135290116 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.379+1G>A single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001035786] ChrX:136207191 [GRCh38]
ChrX:135289350 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.865T>G (p.Cys289Gly) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001234158] ChrX:136209999 [GRCh38]
ChrX:135292158 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001040107] ChrX:136209951 [GRCh38]
ChrX:135292110 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.498C>G (p.Cys166Trp) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001214185] ChrX:136207910 [GRCh38]
ChrX:135290069 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001203530] ChrX:136207160 [GRCh38]
ChrX:135289319 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.810dup (p.Cys271fs) duplication Myopathy with postural muscle atrophy, X-linked [RCV001214484] ChrX:136209938..136209939 [GRCh38]
ChrX:135292097..135292098 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.469T>C (p.Phe157Leu) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001036506] ChrX:136207881 [GRCh38]
ChrX:135290040 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.379+4C>T single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001056405] ChrX:136207194 [GRCh38]
ChrX:135289353 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001215729] ChrX:136207027 [GRCh38]
ChrX:135289186 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_001159699.2(FHL1):c.710G>A (p.Cys237Tyr) single nucleotide variant Asymmetric septal hypertrophy [RCV001251030] ChrX:136208615 [GRCh38]
ChrX:135290774 [GRCh37]
ChrX:Xq26.3
likely pathogenic
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
GRCh37/hg19 Xq26.3(chrX:135190085-135599019)x2 copy number gain not provided [RCV001260048] ChrX:135190085..135599019 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.847del (p.His283fs) deletion Inborn genetic diseases [RCV001267449] ChrX:136209980 [GRCh38]
ChrX:135292139 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.814T>A (p.Ser272Thr) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001350365] ChrX:136209948 [GRCh38]
ChrX:135292107 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.816C>T (p.Ser272=) single nucleotide variant none provided [RCV001289660] ChrX:136209950 [GRCh38]
ChrX:135292109 [GRCh37]
ChrX:Xq26.3
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_001159699.2(FHL1):c.480A>C (p.Lys160Asn) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001315154] ChrX:136207892 [GRCh38]
ChrX:135290051 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.301A>C (p.Asn101His) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001322891] ChrX:136207112 [GRCh38]
ChrX:135289271 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.258G>C (p.Lys86Asn) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001298028] ChrX:136207069 [GRCh38]
ChrX:135289228 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.63T>G (p.Phe21Leu) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001324032] ChrX:136206447 [GRCh38]
ChrX:135288606 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.863A>T (p.Tyr288Phe) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001304864] ChrX:136209997 [GRCh38]
ChrX:135292156 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.452T>A (p.Val151Asp) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001343176] ChrX:136207864 [GRCh38]
ChrX:135290023 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_001159699.2(FHL1):c.457G>A (p.Gly153Arg) single nucleotide variant Myopathy with postural muscle atrophy, X-linked [RCV001323690] ChrX:136207869 [GRCh38]
ChrX:135290028 [GRCh37]
ChrX:Xq26.3
uncertain significance
NC_000023.10:g.(?_135080257)_(135292184_?)dup duplication Christianson syndrome [RCV001339208] ChrX:135080257..135292184 [GRCh37]
ChrX:Xq26.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3702 AgrOrtholog
COSMIC FHL1 COSMIC
Ensembl Genes ENSG00000022267 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359708 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000359710 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000359717 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377709 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377710 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389920 UniProtKB/TrEMBL
  ENSP00000391779 UniProtKB/TrEMBL
  ENSP00000408038 UniProtKB/TrEMBL
  ENSP00000412642 UniProtKB/TrEMBL
  ENSP00000413798 UniProtKB/TrEMBL
  ENSP00000414604 UniProtKB/TrEMBL
  ENSP00000437673 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000443333 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444815 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477609 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000485897 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000486134 UniProtKB/TrEMBL
  ENSP00000486436 UniProtKB/TrEMBL
  ENSP00000486439 UniProtKB/Swiss-Prot
  ENSP00000486631 UniProtKB/TrEMBL
  ENSP00000486782 UniProtKB/Swiss-Prot
  ENSP00000487030 UniProtKB/TrEMBL
  ENSP00000487147 UniProtKB/Swiss-Prot
  ENSP00000487318 UniProtKB/TrEMBL
  ENSP00000487360 UniProtKB/TrEMBL
  ENSP00000487377 UniProtKB/TrEMBL
  ENSP00000498503 UniProtKB/TrEMBL
  ENSP00000498581 UniProtKB/TrEMBL
  ENSP00000498684 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000499016 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000499033 UniProtKB/TrEMBL
Ensembl Transcript ENST00000370674 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000370676 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000370683 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394153 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394155 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000420362 UniProtKB/TrEMBL
  ENST00000434885 UniProtKB/TrEMBL
  ENST00000449474 UniProtKB/TrEMBL
  ENST00000452016 UniProtKB/TrEMBL
  ENST00000456445 UniProtKB/TrEMBL
  ENST00000458357 UniProtKB/TrEMBL
  ENST00000535737 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000539015 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000543669 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000618438 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000625935 UniProtKB/TrEMBL
  ENST00000627383 UniProtKB/TrEMBL
  ENST00000627578 UniProtKB/TrEMBL
  ENST00000627812 UniProtKB/TrEMBL
  ENST00000628032 UniProtKB/TrEMBL
  ENST00000628443 UniProtKB/TrEMBL
  ENST00000628568 UniProtKB/Swiss-Prot
  ENST00000628919 UniProtKB/Swiss-Prot
  ENST00000629039 UniProtKB/Swiss-Prot
  ENST00000630084 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000630278 UniProtKB/TrEMBL
  ENST00000651089 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000651256 UniProtKB/TrEMBL
  ENST00000651929 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000652457 UniProtKB/TrEMBL
  ENST00000652745 UniProtKB/TrEMBL
GTEx ENSG00000022267 GTEx
HGNC ID HGNC:3702 ENTREZGENE
Human Proteome Map FHL1 Human Proteome Map
InterPro Fhl1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2273 UniProtKB/Swiss-Prot
NCBI Gene 2273 ENTREZGENE
OMIM 300163 OMIM
  300280 OMIM
  300695 OMIM
  300696 OMIM
  300717 OMIM
  300718 OMIM
PANTHER PTHR47029 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28141 PharmGKB
PROSITE LIM_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0D9SEY7_HUMAN UniProtKB/TrEMBL
  A0A0D9SFB0_HUMAN UniProtKB/TrEMBL
  A0A0D9SFI6_HUMAN UniProtKB/TrEMBL
  A0A0D9SFZ9_HUMAN UniProtKB/TrEMBL
  A0A0D9SGB2_HUMAN UniProtKB/TrEMBL
  A0A0D9SGC5_HUMAN UniProtKB/TrEMBL
  A0A0D9SGD1_HUMAN UniProtKB/TrEMBL
  A0A494C0D6_HUMAN UniProtKB/TrEMBL
  A0A494C0J3_HUMAN UniProtKB/TrEMBL
  A0A494C1G1_HUMAN UniProtKB/TrEMBL
  B7Z9A1 ENTREZGENE, UniProtKB/TrEMBL
  FHL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5JXH7_HUMAN UniProtKB/TrEMBL
  Q5JXH8_HUMAN UniProtKB/TrEMBL
  Q5JXH9_HUMAN UniProtKB/TrEMBL
  Q5JXI0_HUMAN UniProtKB/TrEMBL
  Q5JXI2 ENTREZGENE, UniProtKB/TrEMBL
  Q5JXI3_HUMAN UniProtKB/TrEMBL
  Q5JXI8_HUMAN UniProtKB/TrEMBL
UniProt Secondary B7Z5T4 UniProtKB/Swiss-Prot
  B7Z793 UniProtKB/Swiss-Prot
  O95212 UniProtKB/Swiss-Prot
  Q13230 UniProtKB/Swiss-Prot
  Q13645 UniProtKB/Swiss-Prot
  Q5JXI7 UniProtKB/Swiss-Prot
  Q5M7Y6 UniProtKB/Swiss-Prot
  Q6IB30 UniProtKB/Swiss-Prot
  Q9NZ40 UniProtKB/Swiss-Prot
  Q9UKZ8 UniProtKB/Swiss-Prot
  Q9Y630 UniProtKB/Swiss-Prot