SELENON (selenoprotein N) - Rat Genome Database
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Gene: SELENON (selenoprotein N) Homo sapiens
Analyze
Symbol: SELENON
Name: selenoprotein N
RGD ID: 1603617
Description: Predicted to have calcium ion binding activity and oxidoreductase activity. Involved in calcium ion homeostasis; positive regulation of response to oxidative stress; and regulation of ryanodine-sensitive calcium-release channel activity. Localizes to endoplasmic reticulum membrane. Implicated in congenital fiber-type disproportion and rigid spine muscular dystrophy 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CFTD; FLJ24021; MDRS1; RSMD1; RSS; selenoprotein N, 1; SELN; SEPN1
Orthologs:
Mus musculus (house mouse) : Selenon (selenoprotein N)  MGI  Alliance
Rattus norvegicus (Norway rat) : Selenon (selenoprotein N)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Selenon (selenoprotein N)
Pan paniscus (bonobo/pygmy chimpanzee) : SELENON (selenoprotein N)
Canis lupus familiaris (dog) : SELENON (selenoprotein N)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Selenon (selenoprotein N)
Sus scrofa (pig) : SELENON (selenoprotein N)
Chlorocebus sabaeus (African green monkey) : SELENON (selenoprotein N)
Heterocephalus glaber (naked mole-rat) : Selenon (selenoprotein N)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl125,800,176 - 25,818,221 (+)EnsemblGRCh38hg38GRCh38
GRCh38125,800,193 - 25,818,221 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37126,126,667 - 26,144,713 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36125,999,254 - 26,017,300 (+)NCBINCBI36hg18NCBI36
Celera124,522,754 - 24,540,804 (+)NCBI
Cytogenetic Map1p36.11NCBI
HuRef124,383,830 - 24,400,647 (+)NCBIHuRef
CHM1_1126,240,110 - 26,257,988 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal rib cage morphology  (IAGP)
Abnormality on pulmonary function testing  (IAGP)
Ankle flexion contracture  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial muscle weakness  (IAGP)
Bulbar palsy  (IAGP)
Calf muscle hypertrophy  (IAGP)
Cardiac conduction abnormality  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital muscular dystrophy  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Cryptorchidism  (IAGP)
Decreased fetal movement  (IAGP)
Delayed gross motor development  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysphagia  (IAGP)
Elbow flexion contracture  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Fatigable weakness of bulbar muscles  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Flexion contracture of finger  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Global developmental delay  (IAGP)
Gowers sign  (IAGP)
Hamstring contractures  (IAGP)
Heterogeneous  (IAGP)
High palate  (IAGP)
High pitched voice  (IAGP)
Hip contracture  (IAGP)
Hip dysplasia  (IAGP)
Hyperlordosis  (IAGP)
Hyporeflexia  (IAGP)
Increased muscle lipid content  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intermittent episodes of respiratory insufficiency due to muscle weakness  (IAGP)
Joint laxity  (IAGP)
Knee flexion contracture  (IAGP)
Kyphoscoliosis  (IAGP)
Limb joint contracture  (IAGP)
Limited neck flexion  (IAGP)
Long face  (IAGP)
Lumbar hyperlordosis  (IAGP)
Mandibular prognathia  (IAGP)
Micrognathia  (IAGP)
Microretrognathia  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Mitral valve prolapse  (IAGP)
Motor delay  (IAGP)
Multiple joint contractures  (IAGP)
Muscle fiber atrophy  (IAGP)
Muscular dystrophy  (IAGP)
Muscular hypotonia  (IAGP)
Myopathy  (IAGP)
Narrow face  (IAGP)
Nasal speech  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal hypotonia  (IAGP)
Nocturnal hypoventilation  (IAGP)
Nonprogressive  (IAGP)
Ophthalmoplegia  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Pneumonia  (IAGP)
Polyhydramnios  (IAGP)
Poor head control  (IAGP)
Poor suck  (IAGP)
Proximal muscle weakness  (IAGP)
Ptosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced forced vital capacity  (IAGP)
Reduced tendon reflexes  (IAGP)
Reduced vital capacity  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Restrictive ventilatory defect  (IAGP)
Right ventricular failure  (IAGP)
Right ventricular hypertrophy  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spinal rigidity  (IAGP)
Talipes equinovarus  (IAGP)
Tented upper lip vermilion  (IAGP)
Type 1 and type 2 muscle fiber minicore regions  (IAGP)
Type 1 fibers relatively smaller than type 2 fibers  (IAGP)
Type 1 muscle fiber atrophy  (IAGP)
Variable expressivity  (IAGP)
Waddling gait  (IAGP)
Weak cry  (IAGP)
Weakness of facial musculature  (IAGP)
References

Additional References at PubMed
PMID:9585610   PMID:10608886   PMID:12192640   PMID:12477932   PMID:12700173   PMID:15122708   PMID:15489334   PMID:15668457   PMID:15791204   PMID:15792869   PMID:15961312   PMID:16365872  
PMID:16498447   PMID:16710414   PMID:16779558   PMID:17474147   PMID:18713863   PMID:18841251   PMID:19067361   PMID:19322201   PMID:19557870   PMID:20301436   PMID:20301467   PMID:20301468  
PMID:20937510   PMID:21048031   PMID:21241449   PMID:21670436   PMID:21873635   PMID:22527882   PMID:23979707   PMID:26186194   PMID:26780752   PMID:27863379   PMID:28514442   PMID:28611215  
PMID:31880214   PMID:32796131   PMID:32817544  


Genomics

Comparative Map Data
SELENON
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl125,800,176 - 25,818,221 (+)EnsemblGRCh38hg38GRCh38
GRCh38125,800,193 - 25,818,221 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37126,126,667 - 26,144,713 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36125,999,254 - 26,017,300 (+)NCBINCBI36hg18NCBI36
Celera124,522,754 - 24,540,804 (+)NCBI
Cytogenetic Map1p36.11NCBI
HuRef124,383,830 - 24,400,647 (+)NCBIHuRef
CHM1_1126,240,110 - 26,257,988 (+)NCBICHM1_1
Selenon
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394134,265,203 - 134,279,477 (-)NCBI
GRCm384134,537,892 - 134,552,166 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4134,537,892 - 134,552,166 (-)EnsemblGRCm38mm10GRCm38
MGSCv374134,093,807 - 134,108,081 (-)NCBIGRCm37mm9NCBIm37
MGSCv364133,809,971 - 133,814,432 (-)NCBImm8
Celera4132,720,626 - 132,734,950 (-)NCBICelera
Cytogenetic Map4D3NCBI
Selenon
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.05152,748,497 - 152,765,489 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5152,750,284 - 152,762,165 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05156,534,095 - 156,553,701 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45153,295,598 - 153,308,305 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15153,305,727 - 153,317,685 (-)NCBI
Celera5145,163,547 - 145,177,184 (-)NCBICelera
Cytogenetic Map5q36NCBI
Selenon
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554525,295,716 - 5,311,113 (+)NCBIChiLan1.0ChiLan1.0
SELENON
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1126,126,602 - 26,144,249 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl126,127,125 - 26,141,745 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0125,058,907 - 25,076,817 (+)NCBIMhudiblu_PPA_v0panPan3
SELENON
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1274,134,448 - 74,149,585 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Selenon
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647410,381,646 - 10,396,638 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SELENON
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1683,246,934 - 83,262,748 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2676,814,410 - 76,821,459 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SELENON
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120106,953,286 - 106,971,249 (-)NCBI
Selenon
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247649,892,161 - 9,905,984 (+)NCBI

Position Markers
D1S2885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,138,886 - 26,139,132UniSTSGRCh37
Build 36126,011,473 - 26,011,719RGDNCBI36
Celera124,534,973 - 24,535,219RGD
Cytogenetic Map1p36.13UniSTS
HuRef124,394,806 - 24,395,062UniSTS
Marshfield Genetic Map155.1RGD
Marshfield Genetic Map155.1UniSTS
Genethon Genetic Map156.6UniSTS
TNG Radiation Hybrid Map110905.0UniSTS
deCODE Assembly Map144.89UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-74434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,144,308 - 26,144,523UniSTSGRCh37
Build 36126,016,895 - 26,017,110RGDNCBI36
Celera124,540,400 - 24,540,614RGD
Cytogenetic Map1p36.13UniSTS
HuRef124,400,243 - 24,400,457UniSTS
TNG Radiation Hybrid Map110913.0UniSTS
GeneMap99-GB4 RH Map187.01UniSTS
A010A48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,130,959 - 26,131,083UniSTSGRCh37
Build 36126,003,546 - 26,003,670RGDNCBI36
Celera124,527,046 - 24,527,170RGD
Cytogenetic Map1p36.13UniSTS
HuRef124,387,261 - 24,387,385UniSTS
GeneMap99-GB4 RH Map187.16UniSTS
NCBI RH Map1142.5UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
G33062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,130,959 - 26,131,083UniSTSGRCh37
Celera124,527,046 - 24,527,170UniSTS
Cytogenetic Map1p36.13UniSTS
HuRef124,387,261 - 24,387,385UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4919
Count of miRNA genes:869
Interacting mature miRNAs:1035
Transcripts:ENST00000354177, ENST00000361547, ENST00000374315, ENST00000494537
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2432 2463 1554 453 1032 294 4355 2162 3692 415 1457 1609 175 1 1204 2786 6 2
Low 7 528 172 171 904 171 2 35 42 4 3 4 2
Below cutoff 15

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA613025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF166125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ306398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ306399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL020996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ217758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354177   ⟹   ENSP00000346109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,800,176 - 25,818,219 (+)Ensembl
RefSeq Acc Id: ENST00000361547   ⟹   ENSP00000355141
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,800,193 - 25,818,221 (+)Ensembl
RefSeq Acc Id: ENST00000374315   ⟹   ENSP00000363434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,800,193 - 25,818,221 (+)Ensembl
RefSeq Acc Id: ENST00000494537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,812,728 - 25,815,990 (+)Ensembl
RefSeq Acc Id: ENST00000630065   ⟹   ENSP00000487549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl125,812,686 - 25,818,219 (+)Ensembl
RefSeq Acc Id: NM_020451   ⟹   NP_065184
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,800,193 - 25,818,221 (+)NCBI
GRCh37126,126,667 - 26,144,713 (+)ENTREZGENE
Build 36125,999,254 - 26,017,300 (+)NCBI Archive
HuRef124,383,830 - 24,400,647 (+)ENTREZGENE
CHM1_1126,240,110 - 26,257,988 (+)NCBI
Sequence:
RefSeq Acc Id: NM_206926   ⟹   NP_996809
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,800,193 - 25,818,221 (+)NCBI
GRCh37126,126,667 - 26,144,713 (+)ENTREZGENE
Build 36125,999,254 - 26,017,300 (+)NCBI Archive
HuRef124,383,830 - 24,400,647 (+)ENTREZGENE
CHM1_1126,240,110 - 26,257,988 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_065184   ⟸   NM_020451
- Peptide Label: isoform 2
- UniProtKB: Q9NZV5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_996809   ⟸   NM_206926
- Peptide Label: isoform 1
- UniProtKB: Q9NZV5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000363434   ⟸   ENST00000374315
RefSeq Acc Id: ENSP00000355141   ⟸   ENST00000361547
RefSeq Acc Id: ENSP00000346109   ⟸   ENST00000354177
RefSeq Acc Id: ENSP00000487549   ⟸   ENST00000630065
Protein Domains
EF-hand

Promoters
RGD ID:6854574
Promoter ID:EPDNEW_H452
Type:initiation region
Name:SEPN1_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H453  EPDNEW_H454  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,800,193 - 25,800,253EPDNEW
RGD ID:6854576
Promoter ID:EPDNEW_H453
Type:multiple initiation site
Name:SEPN1_3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H452  EPDNEW_H454  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,812,603 - 25,812,663EPDNEW
RGD ID:6854578
Promoter ID:EPDNEW_H454
Type:initiation region
Name:SEPN1_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H452  EPDNEW_H453  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38125,817,481 - 25,817,541EPDNEW
RGD ID:6786828
Promoter ID:HG_KWN:1443
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354177,   ENST00000388882,   NM_020451,   NM_206926
Position:
Human AssemblyChrPosition (strand)Source
Build 36125,999,066 - 25,999,566 (+)MPROMDB
RGD ID:6809695
Promoter ID:HG_ACW:1127
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:SEPN1ANDFAM54B.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36125,999,611 - 26,000,111 (+)MPROMDB
RGD ID:6809696
Promoter ID:HG_ACW:1128
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:SEPN1ANDFAM54B.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,003,409 - 26,003,909 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000551007] Chr1:25813899 [GRCh38]
Chr1:26140390 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000723291] Chr1:25805193 [GRCh38]
Chr1:26131684 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.665G>A (p.Trp222Ter) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000545759] Chr1:25808707 [GRCh38]
Chr1:26135198 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1602+12C>T single nucleotide variant not specified [RCV000606957] Chr1:25814190 [GRCh38]
Chr1:26140681 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1094T>C (p.Met365Thr) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000545155] Chr1:25811692 [GRCh38]
Chr1:26138183 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.852C>T (p.Phe284=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001089121]|not provided [RCV000713179] Chr1:25809130 [GRCh38]
Chr1:26135621 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_020451.3(SELENON):c.818G>A (p.Gly273Glu) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000004746] Chr1:25809096 [GRCh38]
Chr1:26135587 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.2(SEPN1):c.1385G>A (p.Sec462=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000004747] Chr1:25812790 [GRCh38]
Chr1:26139281 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1A>G (p.Met1Val) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000004748]|not provided [RCV000482307] Chr1:25800231 [GRCh38]
Chr1:26126722 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000004749]|Muscular dystrophy [RCV001195543]|SEPN1-Related Disorders [RCV000778977]|not provided [RCV000413832] Chr1:25813890 [GRCh38]
Chr1:26140381 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000004750] Chr1:25812763 [GRCh38]
Chr1:26139254 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.713dup (p.Asn238fs) duplication Eichsfeld type congenital muscular dystrophy [RCV000004751]|not provided [RCV000277917] Chr1:25808753..25808754 [GRCh38]
Chr1:26135244..26135245 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1384T>G single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000004752] Chr1:25812789 [GRCh38]
Chr1:26139280 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) single nucleotide variant Congenital myopathy with fiber type disproportion [RCV000004754]|Eichsfeld type congenital muscular dystrophy [RCV000004753]|Eichsfeld type congenital muscular dystrophy [RCV000681664]|SEPN1-Related Disorders [RCV000778235]|not provided [RCV000082020] Chr1:25809753 [GRCh38]
Chr1:26136244 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
SEPN1, 92-BP DEL deletion Eichsfeld type congenital muscular dystrophy [RCV000004755] Chr1:1p36-p35 pathogenic
NM_020451.3(SELENON):c.44_72dup (p.Arg25fs) duplication Eichsfeld type congenital muscular dystrophy [RCV001248662]|not provided [RCV000173498] Chr1:25800270..25800271 [GRCh38]
Chr1:26126761..26126762 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) duplication Eichsfeld type congenital muscular dystrophy [RCV000820386]|not provided [RCV000173501] Chr1:25800233..25800234 [GRCh38]
Chr1:26126724..26126725 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000558595]|SEPN1-Related Disorders [RCV001097299]|not provided [RCV000723675] Chr1:25800333 [GRCh38]
Chr1:26126824 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1173T>C (p.Pro391=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000615156]|SEPN1-Related Disorders [RCV000358370]|not provided [RCV000992917]|not specified [RCV000082009] Chr1:25811771 [GRCh38]
Chr1:26138262 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.1246C>T (p.Arg416Trp) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000702262]|not provided [RCV000082010] Chr1:25811844 [GRCh38]
Chr1:26138335 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000792332]|Feeding difficulties in infancy [RCV001197254]|not provided [RCV000082011] Chr1:25812720 [GRCh38]
Chr1:26139211 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000604869]|SEPN1-Related Disorders [RCV000299948]|not provided [RCV000992919]|not specified [RCV000082012] Chr1:25814082 [GRCh38]
Chr1:26140573 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.1596C>T (p.Gly532=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001088210]|not provided [RCV000723580]|not specified [RCV000082013] Chr1:25814172 [GRCh38]
Chr1:26140663 [GRCh37]
Chr1:1p36.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000542565]|SEPN1-Related Disorders [RCV001097379]|not provided [RCV000723596]|not specified [RCV000082014] Chr1:25815599 [GRCh38]
Chr1:26142090 [GRCh37]
Chr1:1p36.11
conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.301+1G>T single nucleotide variant not provided [RCV000175927] Chr1:25801161 [GRCh38]
Chr1:26127652 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000610428]|SEPN1-Related Disorders [RCV000371932]|not provided [RCV000992920]|not specified [RCV000082016] Chr1:25805163 [GRCh38]
Chr1:26131654 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.42C>T (p.Pro14=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000531784]|SEPN1-Related Disorders [RCV001101036]|not specified [RCV000082017] Chr1:25800272 [GRCh38]
Chr1:26126763 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.427_429GAG[5] (p.Glu146dup) microsatellite Eichsfeld type congenital muscular dystrophy [RCV001080989]|not provided [RCV000082018]|not specified [RCV000194580] Chr1:25805164..25805165 [GRCh38]
Chr1:26131655..26131656 [GRCh37]
Chr1:1p36.11
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001080975]|SEPN1-Related Disorders [RCV001099051]|not provided [RCV000710211]|not specified [RCV000082019] Chr1:25808625 [GRCh38]
Chr1:26135116 [GRCh37]
Chr1:1p36.11
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_020451.3(SELENON):c.981C>T (p.Arg327=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000548448]|SEPN1-Related Disorders [RCV000406527]|not provided [RCV000992921]|not specified [RCV000082021] Chr1:25809791 [GRCh38]
Chr1:26136282 [GRCh37]
Chr1:1p36.11
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000530408]|SEPN1-Related Disorders [RCV000319625]|not specified [RCV000118322] Chr1:25805147 [GRCh38]
Chr1:26131638 [GRCh37]
Chr1:1p36.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.846C>T (p.Ser282=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000534461]|not specified [RCV000179509] Chr1:25809124 [GRCh38]
Chr1:26135615 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_020451.3(SELENON):c.872+2T>C single nucleotide variant not provided [RCV000179510] Chr1:25809152 [GRCh38]
Chr1:26135643 [GRCh37]
Chr1:1p36.11
pathogenic
Single allele duplication Congenital myopathy with fiber type disproportion [RCV000178976]|Eichsfeld type congenital muscular dystrophy [RCV000178975] Chr1:26135246..26135247 [GRCh37] pathogenic
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter) single nucleotide variant not provided [RCV000180670] Chr1:25811694 [GRCh38]
Chr1:26138185 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.14G>A (p.Arg5Gln) single nucleotide variant not provided [RCV000173497] Chr1:25800244 [GRCh38]
Chr1:26126735 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.-19G>C single nucleotide variant not provided [RCV000173499] Chr1:25800212 [GRCh38]
Chr1:26126703 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.183+14C>G single nucleotide variant not provided [RCV000173500] Chr1:25800427 [GRCh38]
Chr1:26126918 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1428G>A (p.Ser476=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001086102]|SEPN1-Related Disorders [RCV001101132]|not provided [RCV000724226] Chr1:25813921 [GRCh38]
Chr1:26140412 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3 copy number gain See cases [RCV000141440] Chr1:25369211..25940790 [GRCh38]
Chr1:25695702..26267281 [GRCh37]
Chr1:25568289..26139868 [NCBI36]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.716G>A (p.Arg239His) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000797996]|SEPN1-Related Disorders [RCV000389179] Chr1:25808758 [GRCh38]
Chr1:26135249 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1075A>G (p.Ile359Val) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001229230] Chr1:25811518 [GRCh38]
Chr1:26138009 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.581C>T (p.Ala194Val) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000556940]|not provided [RCV000153935] Chr1:25808623 [GRCh38]
Chr1:26135114 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1450G>A (p.Glu484Lys) single nucleotide variant not provided [RCV000153936] Chr1:25813943 [GRCh38]
Chr1:26140434 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.253A>G (p.Met85Val) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000706898]|not provided [RCV000175926] Chr1:25801112 [GRCh38]
Chr1:26127603 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000543024]|SEPN1-Related Disorders [RCV001097302]|not provided [RCV000725931]|not specified [RCV000193575] Chr1:25805153 [GRCh38]
Chr1:26131644 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1092+6C>G single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000532540]|SEPN1-Related Disorders [RCV000345511]|not specified [RCV000194503] Chr1:25811541 [GRCh38]
Chr1:26138032 [GRCh37]
Chr1:1p36.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.1110G>A (p.Thr370=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000873164]|SEPN1-Related Disorders [RCV000406505] Chr1:25811708 [GRCh38]
Chr1:26138199 [GRCh37]
Chr1:1p36.11
benign|uncertain significance
NM_020451.3(SELENON):c.-14C>A single nucleotide variant SEPN1-Related Disorders [RCV000261572]|not provided [RCV000595384] Chr1:25800217 [GRCh38]
Chr1:26126708 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.827_829dup (p.Cys277_Leu278insSer) duplication Congenital myopathy with fiber type disproportion [RCV000192616]|not provided [RCV000599220] Chr1:25809104..25809105 [GRCh38]
Chr1:26135595..26135596 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.1350C>G (p.Ile450Met) single nucleotide variant not specified [RCV000192534] Chr1:25812755 [GRCh38]
Chr1:26139246 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1704G>A (p.Pro568=) single nucleotide variant SEPN1-Related Disorders [RCV000277904]|not specified [RCV000615602] Chr1:25815649 [GRCh38]
Chr1:26142140 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_020451.3(SELENON):c.427G>A (p.Glu143Lys) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000555589]|SEPN1-Related Disorders [RCV000279657]|not provided [RCV000488936] Chr1:25805165 [GRCh38]
Chr1:26131656 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1421A>G (p.Glu474Gly) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000697790] Chr1:25813914 [GRCh38]
Chr1:26140405 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_020451.3(SELENON):c.713_714dup (p.Arg239fs) duplication not specified [RCV000228611] Chr1:25808754..25808755 [GRCh38]
Chr1:26135245..26135246 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000791286]|Eichsfeld type congenital muscular dystrophy [RCV000800896]|not provided [RCV000358099] Chr1:25809150 [GRCh38]
Chr1:26135641 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_020451.3(SELENON):c.1082A>G (p.Tyr361Cys) single nucleotide variant SEPN1-Related Disorders [RCV000306973] Chr1:25811525 [GRCh38]
Chr1:26138016 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*267C>A single nucleotide variant SEPN1-Related Disorders [RCV000328429] Chr1:25815985 [GRCh38]
Chr1:26142476 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_020451.3(SELENON):c.1623C>T (p.Asn541=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000636858]|SEPN1-Related Disorders [RCV000317644]|not specified [RCV000422681] Chr1:25815568 [GRCh38]
Chr1:26142059 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_020451.3(SELENON):c.878A>G (p.His293Arg) single nucleotide variant SEPN1-Related Disorders [RCV000349806] Chr1:25809688 [GRCh38]
Chr1:26136179 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000544404]|SEPN1-Related Disorders [RCV000351042]|not provided [RCV000494289] Chr1:25808592 [GRCh38]
Chr1:26135083 [GRCh37]
Chr1:1p36.11
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.1093-45T>C single nucleotide variant not specified [RCV000246053] Chr1:25811646 [GRCh38]
Chr1:26138137 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*1985A>T single nucleotide variant SEPN1-Related Disorders [RCV000280454] Chr1:25817703 [GRCh38]
Chr1:26144194 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1093-46C>A single nucleotide variant not provided [RCV000828934]|not specified [RCV000251176] Chr1:25811645 [GRCh38]
Chr1:26138136 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.465G>A (p.Thr155=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000547825]|not provided [RCV000584991]|not specified [RCV000253793] Chr1:25805203 [GRCh38]
Chr1:26131694 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.1645G>A (p.Val549Met) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000525330]|SEPN1-Related Disorders [RCV000388614]|not specified [RCV000251443] Chr1:25815590 [GRCh38]
Chr1:26142081 [GRCh37]
Chr1:1p36.11
benign|likely benign|uncertain significance
NM_020451.3(SELENON):c.403+47T>A single nucleotide variant not specified [RCV000251529] Chr1:25802164 [GRCh38]
Chr1:26128655 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1501-31C>T single nucleotide variant not provided [RCV000838639]|not specified [RCV000251817] Chr1:25814046 [GRCh38]
Chr1:26140537 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_020451.3(SELENON):c.732G>A (p.Pro244=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000951535]|SEPN1-Related Disorders [RCV001099052]|not specified [RCV000242126] Chr1:25808774 [GRCh38]
Chr1:26135265 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_020451.3(SELENON):c.81C>T (p.Arg27=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000873512]|not specified [RCV000242137] Chr1:25800311 [GRCh38]
Chr1:26126802 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.404-23dup duplication not specified [RCV000244564] Chr1:25805118..25805119 [GRCh38]
Chr1:26131609..26131610 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1602+14C>T single nucleotide variant SEPN1-Related Disorders [RCV000260150]|not specified [RCV000247113] Chr1:25814192 [GRCh38]
Chr1:26140683 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_020451.3(SELENON):c.1281+15G>T single nucleotide variant not specified [RCV000247353] Chr1:25811894 [GRCh38]
Chr1:26138385 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1387+11C>T single nucleotide variant SEPN1-Related Disorders [RCV000266014]|not specified [RCV000247472] Chr1:25812803 [GRCh38]
Chr1:26139294 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_020451.2(SELENON):c.-42T>C single nucleotide variant SEPN1-Related Disorders [RCV000377725]|not specified [RCV000249922] Chr1:25800189 [GRCh38]
Chr1:26126680 [GRCh37]
Chr1:1p36.11
benign|uncertain significance
NM_020451.3(SELENON):c.1282-41C>T single nucleotide variant not provided [RCV000828936]|not specified [RCV000242697] Chr1:25812646 [GRCh38]
Chr1:26139137 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.-35T>C single nucleotide variant SEPN1-Related Disorders [RCV001101034]|not specified [RCV000245166] Chr1:25800196 [GRCh38]
Chr1:26126687 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_020451.3(SELENON):c.747+39C>T single nucleotide variant not specified [RCV000245324] Chr1:25808828 [GRCh38]
Chr1:26135319 [GRCh37]
Chr1:1p36.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_020451.3(SELENON):c.748-40G>A single nucleotide variant not specified [RCV000250384] Chr1:25808986 [GRCh38]
Chr1:26135477 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1281+42G>A single nucleotide variant not specified [RCV000250501] Chr1:25811921 [GRCh38]
Chr1:26138412 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*44G>T single nucleotide variant SEPN1-Related Disorders [RCV001099131]|not specified [RCV000252956] Chr1:25815762 [GRCh38]
Chr1:26142253 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1710G>A (p.Thr570=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000893098]|SEPN1-Related Disorders [RCV001097380]|not specified [RCV000243251] Chr1:25815655 [GRCh38]
Chr1:26142146 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_020451.3(SELENON):c.1745G>A (p.Arg582Gln) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000555157]|SEPN1-Related Disorders [RCV001097381]|not specified [RCV000248395] Chr1:25815690 [GRCh38]
Chr1:26142181 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.729G>A (p.Pro243=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001081584]|SEPN1-Related Disorders [RCV000292421]|not provided [RCV000725590]|not specified [RCV000250797] Chr1:25808771 [GRCh38]
Chr1:26135262 [GRCh37]
Chr1:1p36.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.*1306G>A single nucleotide variant SEPN1-Related Disorders [RCV000313880] Chr1:25817024 [GRCh38]
Chr1:26143515 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*2336A>T single nucleotide variant SEPN1-Related Disorders [RCV000397931] Chr1:25818054 [GRCh38]
Chr1:26144545 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*855C>T single nucleotide variant SEPN1-Related Disorders [RCV000353638] Chr1:25816573 [GRCh38]
Chr1:26143064 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*1807T>C single nucleotide variant SEPN1-Related Disorders [RCV000377647] Chr1:25817525 [GRCh38]
Chr1:26144016 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*780C>T single nucleotide variant SEPN1-Related Disorders [RCV000301368] Chr1:25816498 [GRCh38]
Chr1:26142989 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*1722T>C single nucleotide variant SEPN1-Related Disorders [RCV000378653] Chr1:25817440 [GRCh38]
Chr1:26143931 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.*2047G>A single nucleotide variant SEPN1-Related Disorders [RCV000337823] Chr1:25817765 [GRCh38]
Chr1:26144256 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*267C>G single nucleotide variant SEPN1-Related Disorders [RCV000381821] Chr1:25815985 [GRCh38]
Chr1:26142476 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*228C>T single nucleotide variant SEPN1-Related Disorders [RCV000289813] Chr1:25815946 [GRCh38]
Chr1:26142437 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_020451.3(SELENON):c.*1782C>T single nucleotide variant SEPN1-Related Disorders [RCV000320663] Chr1:25817500 [GRCh38]
Chr1:26143991 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*771G>A single nucleotide variant SEPN1-Related Disorders [RCV000405293] Chr1:25816489 [GRCh38]
Chr1:26142980 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*646A>G single nucleotide variant SEPN1-Related Disorders [RCV000342267] Chr1:25816364 [GRCh38]
Chr1:26142855 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*1612T>C single nucleotide variant SEPN1-Related Disorders [RCV000365105] Chr1:25817330 [GRCh38]
Chr1:26143821 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.*1672T>G single nucleotide variant SEPN1-Related Disorders [RCV000326380] Chr1:25817390 [GRCh38]
Chr1:26143881 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*2234_*2236del deletion SEPN1-Related Disorders [RCV000390586] Chr1:25817947..25817949 [GRCh38]
Chr1:26144438..26144440 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*2465G>A single nucleotide variant SEPN1-Related Disorders [RCV000310137] Chr1:25818183 [GRCh38]
Chr1:26144674 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.*2312T>C single nucleotide variant SEPN1-Related Disorders [RCV000368251] Chr1:25818030 [GRCh38]
Chr1:26144521 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*2283_*2285del deletion SEPN1-Related Disorders [RCV000311420] Chr1:25817999..25818001 [GRCh38]
Chr1:26144490..26144492 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*2207G>A single nucleotide variant SEPN1-Related Disorders [RCV000392865] Chr1:25817925 [GRCh38]
Chr1:26144416 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1000G>A single nucleotide variant SEPN1-Related Disorders [RCV000394280] Chr1:25816718 [GRCh38]
Chr1:26143209 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1500G>A single nucleotide variant SEPN1-Related Disorders [RCV000331616] Chr1:25817218 [GRCh38]
Chr1:26143709 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_020451.3(SELENON):c.*2236del deletion SEPN1-Related Disorders [RCV000351112] Chr1:25817947 [GRCh38]
Chr1:26144438 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.9_33del (p.Ala4fs) deletion not provided [RCV000269233] Chr1:25800233..25800257 [GRCh38]
Chr1:26126724..26126748 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.20G>A (p.Gly7Asp) single nucleotide variant not provided [RCV000372102] Chr1:25800250 [GRCh38]
Chr1:26126741 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000765103]|Eichsfeld type congenital muscular dystrophy [RCV001083468]|not provided [RCV000723478]|not specified [RCV000340120] Chr1:25815660 [GRCh38]
Chr1:26142151 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.997_1000del (p.Val333fs) deletion Eichsfeld type congenital muscular dystrophy [RCV001045576]|not provided [RCV000299743] Chr1:25809806..25809809 [GRCh38]
Chr1:26136297..26136300 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.-12C>T single nucleotide variant not provided [RCV000380045] Chr1:25800219 [GRCh38]
Chr1:26126710 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1622G>A single nucleotide variant SEPN1-Related Disorders [RCV000273010] Chr1:25817340 [GRCh38]
Chr1:26143831 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1496_*1500TTTTG[3] microsatellite SEPN1-Related Disorders [RCV000274156] Chr1:25817214..25817218 [GRCh38]
Chr1:26143705..26143709 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1090C>T (p.Gln364Ter) single nucleotide variant not provided [RCV000364817] Chr1:25811533 [GRCh38]
Chr1:26138024 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.7C>A (p.Arg3=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001086966]|not provided [RCV000259857] Chr1:25800237 [GRCh38]
Chr1:26126728 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.1535C>T (p.Ala512Val) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000528532]|not provided [RCV000585536] Chr1:25814111 [GRCh38]
Chr1:26140602 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.610C>T (p.Arg204Cys) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001228309]|not provided [RCV000333304] Chr1:25808652 [GRCh38]
Chr1:26135143 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*2228del deletion SEPN1-Related Disorders [RCV000279732] Chr1:25817946 [GRCh38]
Chr1:26144437 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000700893]|not provided [RCV000489439] Chr1:25800234 [GRCh38]
Chr1:26126725 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1191G>T (p.Gln397His) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000816430]|SEPN1-Related Disorders [RCV001101130]|not provided [RCV000585312] Chr1:25811789 [GRCh38]
Chr1:26138280 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1636A>G (p.Ile546Val) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000549206]|not provided [RCV000489897] Chr1:25815581 [GRCh38]
Chr1:26142072 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.680A>G (p.Glu227Gly) single nucleotide variant not provided [RCV000489006] Chr1:25808722 [GRCh38]
Chr1:26135213 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*83G>A single nucleotide variant SEPN1-Related Disorders [RCV000330616] Chr1:25815801 [GRCh38]
Chr1:26142292 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*2475T>C single nucleotide variant SEPN1-Related Disorders [RCV000362530] Chr1:25818193 [GRCh38]
Chr1:26144684 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*686A>G single nucleotide variant SEPN1-Related Disorders [RCV000403941] Chr1:25816404 [GRCh38]
Chr1:26142895 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*710C>T single nucleotide variant SEPN1-Related Disorders [RCV000283650] Chr1:25816428 [GRCh38]
Chr1:26142919 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1148_1150GCA[1] (p.Ser384del) microsatellite Eichsfeld type congenital muscular dystrophy [RCV000981757]|SEPN1-Related Disorders [RCV000305666] Chr1:25811746..25811748 [GRCh38]
Chr1:26138237..26138239 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_020451.3(SELENON):c.*219_*222del deletion SEPN1-Related Disorders [RCV000387493] Chr1:25815934..25815937 [GRCh38]
Chr1:26142425..26142428 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1333G>C single nucleotide variant SEPN1-Related Disorders [RCV000370846] Chr1:25817051 [GRCh38]
Chr1:26143542 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1731A>C single nucleotide variant SEPN1-Related Disorders [RCV000286645] Chr1:25817449 [GRCh38]
Chr1:26143940 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*754G>A single nucleotide variant SEPN1-Related Disorders [RCV000340962] Chr1:25816472 [GRCh38]
Chr1:26142963 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1575G>A (p.Met525Ile) single nucleotide variant SEPN1-Related Disorders [RCV000357191] Chr1:25814151 [GRCh38]
Chr1:26140642 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*482del deletion SEPN1-Related Disorders [RCV000289732] Chr1:25816199 [GRCh38]
Chr1:26142690 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys) single nucleotide variant not provided [RCV000592718] Chr1:25809693 [GRCh38]
Chr1:26136184 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.957C>T (p.Leu319=) single nucleotide variant SEPN1-Related Disorders [RCV001099053] Chr1:25809767 [GRCh38]
Chr1:26136258 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.257A>G (p.Tyr86Cys) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000531331] Chr1:25801116 [GRCh38]
Chr1:26127607 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*501G>A single nucleotide variant SEPN1-Related Disorders [RCV001099228] Chr1:25816219 [GRCh38]
Chr1:26142710 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.*679C>T single nucleotide variant SEPN1-Related Disorders [RCV001099229] Chr1:25816397 [GRCh38]
Chr1:26142888 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1944T>C single nucleotide variant SEPN1-Related Disorders [RCV001099339] Chr1:25817662 [GRCh38]
Chr1:26144153 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*2043G>T single nucleotide variant SEPN1-Related Disorders [RCV001099340] Chr1:25817761 [GRCh38]
Chr1:26144252 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) duplication Eichsfeld type congenital muscular dystrophy [RCV000799500]|not provided [RCV000627410] Chr1:25801105..25801106 [GRCh38]
Chr1:26127596..26127597 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1351C>G (p.Leu451Val) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001037379]|not provided [RCV000732317] Chr1:25812756 [GRCh38]
Chr1:26139247 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.10G>T (p.Ala4Ser) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000557694] Chr1:25800240 [GRCh38]
Chr1:26126731 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.979C>T (p.Arg327Cys) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000535820] Chr1:25809789 [GRCh38]
Chr1:26136280 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) deletion Congenital myopathy with fiber type disproportion [RCV000501710]|Eichsfeld type congenital muscular dystrophy [RCV001060927]|not provided [RCV000413324] Chr1:25800212..25800303 [GRCh38]
Chr1:26126703..26126794 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1359G>C (p.Trp453Cys) single nucleotide variant not provided [RCV000413433] Chr1:25812764 [GRCh38]
Chr1:26139255 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.482G>A (p.Arg161Gln) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000811824]|Joint laxity [RCV000415215]|Joint laxity [RCV001198217] Chr1:25805220 [GRCh38]
Chr1:26131711 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000814481]|not provided [RCV001093411] Chr1:25809080 [GRCh38]
Chr1:26135571 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_020451.3(SELENON):c.1162A>G (p.Ser388Gly) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000875172]|SEPN1-Related Disorders [RCV001100862]|not specified [RCV000420624] Chr1:25811760 [GRCh38]
Chr1:26138251 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_020451.3(SELENON):c.-1C>T single nucleotide variant not specified [RCV000417846] Chr1:25800230 [GRCh38]
Chr1:26126721 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1092+16G>C single nucleotide variant not specified [RCV000417909] Chr1:25811551 [GRCh38]
Chr1:26138042 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.693C>T (p.Phe231=) single nucleotide variant not provided [RCV000920407]|not specified [RCV000420990] Chr1:25808735 [GRCh38]
Chr1:26135226 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1638C>T (p.Ile546=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001084680]|not provided [RCV000636860]|not specified [RCV000439056] Chr1:25815583 [GRCh38]
Chr1:26142074 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020451.3(SELENON):c.1644C>T (p.Ser548=) single nucleotide variant not provided [RCV000917053]|not specified [RCV000428906] Chr1:25815589 [GRCh38]
Chr1:26142080 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.748-9C>T single nucleotide variant not provided [RCV000879667]|not specified [RCV000419223] Chr1:25809017 [GRCh38]
Chr1:26135508 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1500+7G>A single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000876107]|SEPN1-Related Disorders [RCV001101133]|not specified [RCV000422463] Chr1:25814000 [GRCh38]
Chr1:26140491 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_020451.3(SELENON):c.171G>A (p.Ala57=) single nucleotide variant not specified [RCV000429644] Chr1:25800401 [GRCh38]
Chr1:26126892 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1455C>T (p.Ser485=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000876875]|not specified [RCV000440753] Chr1:25813948 [GRCh38]
Chr1:26140439 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_020451.3(SELENON):c.9G>C (p.Arg3=) single nucleotide variant not specified [RCV000444196] Chr1:25800239 [GRCh38]
Chr1:26126730 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.301+18C>T single nucleotide variant not specified [RCV000444601] Chr1:25801178 [GRCh38]
Chr1:26127669 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.183+11G>A single nucleotide variant not specified [RCV000426955] Chr1:25800424 [GRCh38]
Chr1:26126915 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.683_689dup (p.Met230fs) duplication not provided [RCV000481356] Chr1:25808724..25808725 [GRCh38]
Chr1:26135215..26135216 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.538G>T (p.Val180Phe) single nucleotide variant not provided [RCV000478728] Chr1:25808580 [GRCh38]
Chr1:26135071 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1603-14G>A single nucleotide variant not provided [RCV000523179] Chr1:25815534 [GRCh38]
Chr1:26142025 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.402_403+2del deletion Eichsfeld type congenital muscular dystrophy [RCV000554237] Chr1:25802115..25802118 [GRCh38]
Chr1:26128606..26128609 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.855C>G (p.Tyr285Ter) single nucleotide variant not provided [RCV000497578] Chr1:25809133 [GRCh38]
Chr1:26135624 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.1289dup (p.Tyr430Ter) duplication not provided [RCV000497682] Chr1:25812693..25812694 [GRCh38]
Chr1:26139184..26139185 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000811605]|not provided [RCV000497945] Chr1:25813920 [GRCh38]
Chr1:26140411 [GRCh37]
Chr1:1p36.11
likely pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_020451.3(SELENON):c.1332_1334del (p.Asn444del) deletion not provided [RCV000498263] Chr1:25812735..25812737 [GRCh38]
Chr1:26139226..26139228 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000698272] Chr1:25812780 [GRCh38]
Chr1:26139271 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.2T>C (p.Met1Thr) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000636853] Chr1:25800232 [GRCh38]
Chr1:26126723 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.456C>G (p.Ser152Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000636854] Chr1:25805194 [GRCh38]
Chr1:26131685 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.501G>A (p.Pro167=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000636855] Chr1:25805239 [GRCh38]
Chr1:26131730 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.430G>A (p.Glu144Lys) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000636856]|SEPN1-Related Disorders [RCV001099050] Chr1:25805168 [GRCh38]
Chr1:26131659 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.921G>A (p.Trp307Ter) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000636857] Chr1:25809731 [GRCh38]
Chr1:26136222 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1128C>T (p.Ser376=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000636859] Chr1:25811726 [GRCh38]
Chr1:26138217 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1378T>C (p.Ser460Pro) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000533869] Chr1:25812783 [GRCh38]
Chr1:26139274 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.184-3C>T single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000636852] Chr1:25801040 [GRCh38]
Chr1:26127531 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1078G>A (p.Gly360Ser) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000636851] Chr1:25811521 [GRCh38]
Chr1:26138012 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.948C>T (p.His316=) single nucleotide variant not specified [RCV000600236] Chr1:25809758 [GRCh38]
Chr1:26136249 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.2T>G (p.Met1Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000541651] Chr1:25800232 [GRCh38]
Chr1:26126723 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_020451.3(SELENON):c.301+6A>T single nucleotide variant not specified [RCV000614976] Chr1:25801166 [GRCh38]
Chr1:26127657 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.-22_-13dup duplication not specified [RCV000609592] Chr1:25800201..25800202 [GRCh38]
Chr1:26126692..26126693 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000535222]|not provided [RCV000591683] Chr1:25813962 [GRCh38]
Chr1:26140453 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.2(SELENON):c.-58_-47dup duplication not specified [RCV000608740] Chr1:25800162..25800163 [GRCh38]
Chr1:26126653..26126654 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.537+16C>T single nucleotide variant not specified [RCV000612013] Chr1:25805291 [GRCh38]
Chr1:26131782 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1010+20C>T single nucleotide variant not specified [RCV000600283] Chr1:25809840 [GRCh38]
Chr1:26136331 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1635C>T (p.Asp545=) single nucleotide variant not specified [RCV000606414] Chr1:25815580 [GRCh38]
Chr1:26142071 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.847G>A (p.Asp283Asn) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000685472] Chr1:25809125 [GRCh38]
Chr1:26135616 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000791287]|not provided [RCV000713178] Chr1:25811710 [GRCh38]
Chr1:26138201 [GRCh37]
Chr1:1p36.11
likely pathogenic|uncertain significance
NM_020451.3(SELENON):c.1195G>C (p.Val399Leu) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000689965] Chr1:25811793 [GRCh38]
Chr1:26138284 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1386A>G single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000694730] Chr1:25812791 [GRCh38]
Chr1:26139282 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.686G>C (p.Ser229Thr) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000687464] Chr1:25808728 [GRCh38]
Chr1:26135219 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.188T>G (p.Leu63Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000693482] Chr1:25801047 [GRCh38]
Chr1:26127538 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1498C>G (p.Gln500Glu) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000701160] Chr1:25813991 [GRCh38]
Chr1:26140482 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.935A>G (p.Gln312Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000702293] Chr1:25809745 [GRCh38]
Chr1:26136236 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.760C>T (p.Arg254Trp) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000693853] Chr1:25809038 [GRCh38]
Chr1:26135529 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.166C>T (p.Gln56Ter) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000696370] Chr1:25800396 [GRCh38]
Chr1:26126887 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000692095] Chr1:25813898 [GRCh38]
Chr1:26140389 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.1501-1G>A single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000815877] Chr1:25814076 [GRCh38]
Chr1:26140567 [GRCh37]
Chr1:1p36.11
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_020451.3(SELENON):c.3_7GGGCC[3] (p.Arg5fs) microsatellite Eichsfeld type congenital muscular dystrophy [RCV000761458] Chr1:25800232..25800233 [GRCh38]
Chr1:26126723..26126724 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.992T>C (p.Leu331Pro) single nucleotide variant not provided [RCV000993955] Chr1:25809802 [GRCh38]
Chr1:26136293 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.793G>A (p.Val265Met) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001054739] Chr1:25809071 [GRCh38]
Chr1:26135562 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_020451.3(SELENON):c.747+8C>T single nucleotide variant not provided [RCV000922920] Chr1:25808797 [GRCh38]
Chr1:26135288 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1017G>A (p.Leu339=) single nucleotide variant not provided [RCV000982135] Chr1:25811460 [GRCh38]
Chr1:26137951 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.957C>G (p.Leu319=) single nucleotide variant not provided [RCV000884353] Chr1:25809767 [GRCh38]
Chr1:26136258 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.183+10C>G single nucleotide variant not provided [RCV000870933] Chr1:25800423 [GRCh38]
Chr1:26126914 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1314C>T (p.Asp438=) single nucleotide variant not provided [RCV000904643] Chr1:25812719 [GRCh38]
Chr1:26139210 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1369G>T (p.Asp457Tyr) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001037082] Chr1:25812774 [GRCh38]
Chr1:26139265 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1348A>G (p.Ile450Val) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001045705] Chr1:25812753 [GRCh38]
Chr1:26139244 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.65C>T (p.Ala22Val) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001045720] Chr1:25800295 [GRCh38]
Chr1:26126786 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.-26_12del (p.Met1fs) deletion Eichsfeld type congenital muscular dystrophy [RCV001046947] Chr1:25800198..25800235 [GRCh38]
Chr1:26126689..26126726 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.276C>A (p.Phe92Leu) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001065269] Chr1:25801135 [GRCh38]
Chr1:26127626 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.180del (p.Gln61fs) deletion SEPN1-Related Disorders [RCV000778233] Chr1:25800409 [GRCh38]
Chr1:26126900 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.537+1dup duplication SEPN1-Related Disorders [RCV000778234] Chr1:25805272..25805273 [GRCh38]
Chr1:26131763..26131764 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.873-2A>G single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000814509] Chr1:25809681 [GRCh38]
Chr1:26136172 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.943G>C (p.Gly315Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000819167] Chr1:25809753 [GRCh38]
Chr1:26136244 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup) duplication Eichsfeld type congenital muscular dystrophy [RCV000821151] Chr1:25800344..25800345 [GRCh38]
Chr1:26126835..26126836 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.748-7C>T single nucleotide variant not provided [RCV000882157] Chr1:25809019 [GRCh38]
Chr1:26135510 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.717C>T (p.Arg239=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000876348] Chr1:25808759 [GRCh38]
Chr1:26135250 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1239G>A (p.Glu413=) single nucleotide variant not provided [RCV000916348] Chr1:25811837 [GRCh38]
Chr1:26138328 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.99G>C (p.Leu33=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000979535] Chr1:25800329 [GRCh38]
Chr1:26126820 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.858C>T (p.Tyr286=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000896187] Chr1:25809136 [GRCh38]
Chr1:26135627 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1500+8G>A single nucleotide variant not provided [RCV000946176] Chr1:25814001 [GRCh38]
Chr1:26140492 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1077C>T (p.Ile359=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000897553] Chr1:25811520 [GRCh38]
Chr1:26138011 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1344C>T (p.His448=) single nucleotide variant not provided [RCV000925888] Chr1:25812749 [GRCh38]
Chr1:26139240 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.414C>T (p.Pro138=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000897132] Chr1:25805152 [GRCh38]
Chr1:26131643 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1011-181T>C single nucleotide variant not provided [RCV000839160] Chr1:25811273 [GRCh38]
Chr1:26137764 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000822846] Chr1:25811778 [GRCh38]
Chr1:26138269 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.404-174G>A single nucleotide variant not provided [RCV000828932] Chr1:25804968 [GRCh38]
Chr1:26131459 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.1281+81A>G single nucleotide variant not provided [RCV000828935] Chr1:25811960 [GRCh38]
Chr1:26138451 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.1158C>G (p.Ile386Met) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000823675] Chr1:25811756 [GRCh38]
Chr1:26138247 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.538-3C>T single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000797336] Chr1:25808577 [GRCh38]
Chr1:26135068 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000819498] Chr1:25809149 [GRCh38]
Chr1:26135640 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.457G>A (p.Glu153Lys) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000806100] Chr1:25805195 [GRCh38]
Chr1:26131686 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1603-236G>T single nucleotide variant not provided [RCV000828939] Chr1:25815312 [GRCh38]
Chr1:26141803 [GRCh37]
Chr1:1p36.11
benign
NC_000001.11:g.25814046C>T single nucleotide variant not provided [RCV000838639] Chr1:26140537 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.183+298T>G single nucleotide variant not provided [RCV000840572] Chr1:25800711 [GRCh38]
Chr1:26127202 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.183+299T>C single nucleotide variant not provided [RCV000840575] Chr1:25800712 [GRCh38]
Chr1:26127203 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.873-261T>C single nucleotide variant not provided [RCV000840578] Chr1:25809422 [GRCh38]
Chr1:26135913 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.996C>T (p.Phe332=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000937608] Chr1:25809806 [GRCh38]
Chr1:26136297 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.882C>T (p.Ala294=) single nucleotide variant not provided [RCV000960370] Chr1:25809692 [GRCh38]
Chr1:26136183 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.872+7G>A single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000811323] Chr1:25809157 [GRCh38]
Chr1:26135648 [GRCh37]
Chr1:1p36.11
uncertain significance
NC_000001.11:g.25799884A>G single nucleotide variant not provided [RCV000840814] Chr1:25799884 [GRCh38]
Chr1:26126375 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.82G>T (p.Ala28Ser) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000806146] Chr1:25800312 [GRCh38]
Chr1:26126803 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1388-3C>T single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000811554] Chr1:25813878 [GRCh38]
Chr1:26140369 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.183+116G>A single nucleotide variant not provided [RCV000828413] Chr1:25800529 [GRCh38]
Chr1:26127020 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.-55_183del deletion Eichsfeld type congenital muscular dystrophy [RCV000816417] Chr1:25800175..25800412 [GRCh38]
Chr1:26126666..26126903 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1339G>A (p.Val447Met) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000819851] Chr1:25812744 [GRCh38]
Chr1:26139235 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.-64_36del deletion Eichsfeld type congenital muscular dystrophy [RCV000823425] Chr1:25800159..25800258 [GRCh38]
Chr1:26126650..26126749 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.301+114G>T single nucleotide variant not provided [RCV000839239] Chr1:25801274 [GRCh38]
Chr1:26127765 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000794147] Chr1:25812784 [GRCh38]
Chr1:26139275 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.302-200C>T single nucleotide variant not provided [RCV000828931] Chr1:25801816 [GRCh38]
Chr1:26128307 [GRCh37]
Chr1:1p36.11
benign
NC_000001.11:g.25812646C>T single nucleotide variant not provided [RCV000828936] Chr1:26139137 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.1744C>T (p.Arg582Trp) single nucleotide variant not provided [RCV001090914] Chr1:25815689 [GRCh38]
Chr1:26142180 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.300del (p.Ser102fs) deletion Eichsfeld type congenital muscular dystrophy [RCV000820653] Chr1:25801159 [GRCh38]
Chr1:26127650 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.184-109G>A single nucleotide variant not provided [RCV000828930] Chr1:25800934 [GRCh38]
Chr1:26127425 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.1010+141A>C single nucleotide variant not provided [RCV000828933] Chr1:25809961 [GRCh38]
Chr1:26136452 [GRCh37]
Chr1:1p36.11
benign
NC_000001.11:g.25811645C>A single nucleotide variant not provided [RCV000828934] Chr1:26138136 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.1387+109A>G single nucleotide variant not provided [RCV000828937] Chr1:25812901 [GRCh38]
Chr1:26139392 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.1427C>G (p.Ser476Trp) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000795582] Chr1:25813920 [GRCh38]
Chr1:26140411 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.417G>A (p.Ala139=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000821309] Chr1:25805155 [GRCh38]
Chr1:26131646 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.10G>C (p.Ala4Pro) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000821559] Chr1:25800240 [GRCh38]
Chr1:26126731 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1387+161G>A single nucleotide variant not provided [RCV000828938] Chr1:25812953 [GRCh38]
Chr1:26139444 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.302-3C>G single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000798969] Chr1:25802013 [GRCh38]
Chr1:26128504 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1010+72A>G single nucleotide variant not provided [RCV000838589] Chr1:25809892 [GRCh38]
Chr1:26136383 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.1010+76G>A single nucleotide variant not provided [RCV000838590] Chr1:25809896 [GRCh38]
Chr1:26136387 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.404-115C>T single nucleotide variant not provided [RCV000839083] Chr1:25805027 [GRCh38]
Chr1:26131518 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.538-156C>T single nucleotide variant not provided [RCV000839084] Chr1:25808424 [GRCh38]
Chr1:26134915 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*63C>T single nucleotide variant SEPN1-Related Disorders [RCV001099132] Chr1:25815781 [GRCh38]
Chr1:26142272 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*144C>G single nucleotide variant SEPN1-Related Disorders [RCV001099133] Chr1:25815862 [GRCh38]
Chr1:26142353 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.1249C>T (p.Arg417Cys) single nucleotide variant not provided [RCV000992918] Chr1:25811847 [GRCh38]
Chr1:26138338 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.980G>A (p.Arg327His) single nucleotide variant SEPN1-Related Disorders [RCV001099054] Chr1:25809790 [GRCh38]
Chr1:26136281 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1840G>A single nucleotide variant SEPN1-Related Disorders [RCV001099338] Chr1:25817558 [GRCh38]
Chr1:26144049 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1318G>A (p.Ala440Thr) single nucleotide variant not provided [RCV000993956] Chr1:25812723 [GRCh38]
Chr1:26139214 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1744C>G (p.Arg582Gly) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001202481] Chr1:25815689 [GRCh38]
Chr1:26142180 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.11(chr1:25872197-26274156)x3 copy number gain See cases [RCV001194548] Chr1:25872197..26274156 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.392T>G (p.Leu131Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001230925] Chr1:25802106 [GRCh38]
Chr1:26128597 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1363G>T (p.Ala455Ser) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001212108] Chr1:25812768 [GRCh38]
Chr1:26139259 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.760C>G (p.Arg254Gly) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001225712] Chr1:25809038 [GRCh38]
Chr1:26135529 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001224095] Chr1:25808607 [GRCh38]
Chr1:26135098 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.19_47dup (p.Ala18fs) duplication Eichsfeld type congenital muscular dystrophy [RCV001227309] Chr1:25800248..25800249 [GRCh38]
Chr1:26126739..26126740 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.550G>A (p.Ala184Thr) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001222781] Chr1:25808592 [GRCh38]
Chr1:26135083 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.404-1G>A single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001237547] Chr1:25805141 [GRCh38]
Chr1:26131632 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.730C>T (p.Pro244Ser) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001209919] Chr1:25808772 [GRCh38]
Chr1:26135263 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.977T>G (p.Val326Gly) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001241500] Chr1:25809787 [GRCh38]
Chr1:26136278 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.205G>C (p.Gly69Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001240562] Chr1:25801064 [GRCh38]
Chr1:26127555 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1510_1512del (p.Glu504del) deletion Eichsfeld type congenital muscular dystrophy [RCV001226454] Chr1:25814084..25814086 [GRCh38]
Chr1:26140575..26140577 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1092+6C>T single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001211336] Chr1:25811541 [GRCh38]
Chr1:26138032 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.183+3C>T single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001207529] Chr1:25800416 [GRCh38]
Chr1:26126907 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1524C>A (p.His508Gln) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001236255] Chr1:25814100 [GRCh38]
Chr1:26140591 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1607A>G (p.His536Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001210985] Chr1:25815552 [GRCh38]
Chr1:26142043 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.410C>T (p.Thr137Ile) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001247543] Chr1:25805148 [GRCh38]
Chr1:26131639 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1295C>T (p.Pro432Leu) single nucleotide variant SEPN1-Related Disorders [RCV001101131] Chr1:25812700 [GRCh38]
Chr1:26139191 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*938C>T single nucleotide variant SEPN1-Related Disorders [RCV001101226] Chr1:25816656 [GRCh38]
Chr1:26143147 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.*1200C>T single nucleotide variant SEPN1-Related Disorders [RCV001101229] Chr1:25816918 [GRCh38]
Chr1:26143409 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1231A>G single nucleotide variant SEPN1-Related Disorders [RCV001101230] Chr1:25816949 [GRCh38]
Chr1:26143440 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.302-11T>A single nucleotide variant SEPN1-Related Disorders [RCV001097301] Chr1:25802005 [GRCh38]
Chr1:26128496 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.942C>T (p.Thr314=) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000894803] Chr1:25809752 [GRCh38]
Chr1:26136243 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.225C>T (p.Leu75=) single nucleotide variant not provided [RCV000975499] Chr1:25801084 [GRCh38]
Chr1:26127575 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1710G>C (p.Thr570=) single nucleotide variant not provided [RCV000925849] Chr1:25815655 [GRCh38]
Chr1:26142146 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.580G>C (p.Ala194Pro) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV000945753] Chr1:25808622 [GRCh38]
Chr1:26135113 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.684G>C (p.Leu228=) single nucleotide variant not provided [RCV000977194] Chr1:25808726 [GRCh38]
Chr1:26135217 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1572GAT[2] (p.Met526del) microsatellite Eichsfeld type congenital muscular dystrophy [RCV001214061] Chr1:25814148..25814150 [GRCh38]
Chr1:26140639..26140641 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.643del (p.Gln215fs) deletion Eichsfeld type congenital muscular dystrophy [RCV001229877] Chr1:25808684 [GRCh38]
Chr1:26135175 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1367T>G (p.Leu456Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001218773] Chr1:25812772 [GRCh38]
Chr1:26139263 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1387+6G>A single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001244514] Chr1:25812798 [GRCh38]
Chr1:26139289 [GRCh37]
Chr1:1p36.11
uncertain significance
Single allele insertion Eichsfeld type congenital muscular dystrophy [RCV001089857] Chr1:1p36.11 pathogenic
NM_020451.3(SELENON):c.*1787G>A single nucleotide variant SEPN1-Related Disorders [RCV001099336] Chr1:25817505 [GRCh38]
Chr1:26143996 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.746A>T (p.Glu249Val) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001213573] Chr1:25808788 [GRCh38]
Chr1:26135279 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.737A>G (p.Lys246Arg) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001206447] Chr1:25808779 [GRCh38]
Chr1:26135270 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.814C>T (p.Gln272Ter) single nucleotide variant not provided [RCV001093412] Chr1:25809092 [GRCh38]
Chr1:26135583 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.*1406C>T single nucleotide variant SEPN1-Related Disorders [RCV001097478] Chr1:25817124 [GRCh38]
Chr1:26143615 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*698T>C single nucleotide variant SEPN1-Related Disorders [RCV001099230] Chr1:25816416 [GRCh38]
Chr1:26142907 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.*1831A>G single nucleotide variant SEPN1-Related Disorders [RCV001099337] Chr1:25817549 [GRCh38]
Chr1:26144040 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1010+14C>G single nucleotide variant SEPN1-Related Disorders [RCV001100860] Chr1:25809834 [GRCh38]
Chr1:26136325 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1141G>A (p.Glu381Lys) single nucleotide variant SEPN1-Related Disorders [RCV001100861] Chr1:25811739 [GRCh38]
Chr1:26138230 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1477G>C (p.Val493Leu) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001060175] Chr1:25813970 [GRCh38]
Chr1:26140461 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*2158C>T single nucleotide variant SEPN1-Related Disorders [RCV001101330] Chr1:25817876 [GRCh38]
Chr1:26144367 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*2437T>G single nucleotide variant SEPN1-Related Disorders [RCV001101333] Chr1:25818155 [GRCh38]
Chr1:26144646 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*2257C>T single nucleotide variant SEPN1-Related Disorders [RCV001101331] Chr1:25817975 [GRCh38]
Chr1:26144466 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.746_747+36del deletion Muscular dystrophy [RCV001195544] Chr1:25808787..25808824 [GRCh38]
Chr1:26135278..26135315 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.*316C>T single nucleotide variant SEPN1-Related Disorders [RCV001099134] Chr1:25816034 [GRCh38]
Chr1:26142525 [GRCh37]
Chr1:1p36.11
likely benign
NM_020451.3(SELENON):c.1243G>A (p.Ala415Thr) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001202378] Chr1:25811841 [GRCh38]
Chr1:26138332 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001039378] Chr1:25805219 [GRCh38]
Chr1:26131710 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.1010+1G>A single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001039380] Chr1:25809821 [GRCh38]
Chr1:26136312 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.863_864del (p.Val288fs) microsatellite Eichsfeld type congenital muscular dystrophy [RCV001214700] Chr1:25809139..25809140 [GRCh38]
Chr1:26135630..26135631 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.538-1G>A single nucleotide variant Feeding difficulties in infancy [RCV001197253] Chr1:25808579 [GRCh38]
Chr1:26135070 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.989G>A (p.Arg330Gln) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001218823] Chr1:25809799 [GRCh38]
Chr1:26136290 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1602+1G>A single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001207653] Chr1:25814179 [GRCh38]
Chr1:26140670 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.500C>T (p.Pro167Leu) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001041299] Chr1:25805238 [GRCh38]
Chr1:26131729 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1072G>A (p.Asp358Asn) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001041803] Chr1:25811515 [GRCh38]
Chr1:26138006 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1251A>G single nucleotide variant SEPN1-Related Disorders [RCV001097476] Chr1:25816969 [GRCh38]
Chr1:26143460 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.7C>G (p.Arg3Gly) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001070213] Chr1:25800237 [GRCh38]
Chr1:26126728 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1652A>G single nucleotide variant SEPN1-Related Disorders [RCV001097580] Chr1:25817370 [GRCh38]
Chr1:26143861 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1282-3C>G single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001203744] Chr1:25812684 [GRCh38]
Chr1:26139175 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1517C>T (p.Ser506Leu) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001065040] Chr1:25814093 [GRCh38]
Chr1:26140584 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*2403G>A single nucleotide variant SEPN1-Related Disorders [RCV001101332] Chr1:25818121 [GRCh38]
Chr1:26144612 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1107T>C single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001047138] Chr1:25816825 [GRCh38]
Chr1:26143316 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_020451.3(SELENON):c.1465_1466del (p.Thr489fs) deletion Eichsfeld type congenital muscular dystrophy [RCV001035772] Chr1:25813957..25813958 [GRCh38]
Chr1:26140448..26140449 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.1209dup (p.Lys404fs) duplication Eichsfeld type congenital muscular dystrophy [RCV001036948] Chr1:25811806..25811807 [GRCh38]
Chr1:26138297..26138298 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.164C>T (p.Ala55Val) single nucleotide variant SEPN1-Related Disorders [RCV001097300] Chr1:25800394 [GRCh38]
Chr1:26126885 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1357A>C single nucleotide variant SEPN1-Related Disorders [RCV001097477] Chr1:25817075 [GRCh38]
Chr1:26143566 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*1435G>A single nucleotide variant SEPN1-Related Disorders [RCV001097479] Chr1:25817153 [GRCh38]
Chr1:26143644 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.902C>T (p.Pro301Leu) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001040787] Chr1:25809712 [GRCh38]
Chr1:26136203 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.-1C>A single nucleotide variant SEPN1-Related Disorders [RCV001101035] Chr1:25800230 [GRCh38]
Chr1:26126721 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter) single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001216012] Chr1:25802086 [GRCh38]
Chr1:26128577 [GRCh37]
Chr1:1p36.11
pathogenic
NM_020451.3(SELENON):c.*942T>G single nucleotide variant SEPN1-Related Disorders [RCV001101227] Chr1:25816660 [GRCh38]
Chr1:26143151 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*987T>C single nucleotide variant SEPN1-Related Disorders [RCV001101228] Chr1:25816705 [GRCh38]
Chr1:26143196 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_020451.3(SELENON):c.*2130C>T single nucleotide variant SEPN1-Related Disorders [RCV001101329] Chr1:25817848 [GRCh38]
Chr1:26144339 [GRCh37]
Chr1:1p36.11
benign
NM_020451.3(SELENON):c.872+1G>A single nucleotide variant Eichsfeld type congenital muscular dystrophy [RCV001251099] Chr1:25809151 [GRCh38]
Chr1:26135642 [GRCh37]
Chr1:1p36.11
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15999 AgrOrtholog
COSMIC SELENON COSMIC
Ensembl Genes ENSG00000162430 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000346109 UniProtKB/TrEMBL
  ENSP00000355141 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363434 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000487549 UniProtKB/TrEMBL
Ensembl Transcript ENST00000354177 UniProtKB/TrEMBL
  ENST00000361547 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374315 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000630065 UniProtKB/TrEMBL
GTEx ENSG00000162430 GTEx
HGNC ID HGNC:15999 ENTREZGENE
Human Proteome Map SELENON Human Proteome Map
InterPro EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57190 UniProtKB/Swiss-Prot
NCBI Gene 57190 ENTREZGENE
OMIM 255310 OMIM
  602771 OMIM
  606210 OMIM
PharmGKB PA38079 PharmGKB
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.323396 ENTREZGENE
UniProt A0A0D9SGI9_HUMAN UniProtKB/TrEMBL
  H9KV50_HUMAN UniProtKB/TrEMBL
  Q9NZV5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NJG8 UniProtKB/Swiss-Prot
  A8MQ64 UniProtKB/Swiss-Prot
  Q6PI70 UniProtKB/Swiss-Prot
  Q969F6 UniProtKB/Swiss-Prot
  Q9NUI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-09-27 SELENON  selenoprotein N  SEPN1  selenoprotein N, 1  Symbol and/or name change 5135510 APPROVED