ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) - Rat Genome Database

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Gene: ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) Homo sapiens
Analyze
Symbol: ALG13
Name: ALG13 UDP-N-acetylglucosaminyltransferase subunit
RGD ID: 1351399
HGNC Page HGNC
Description: Exhibits RNA binding activity. Predicted to be involved in negative regulation of TORC1 signaling; negative regulation of neuron death; and regulation of synaptic plasticity. Predicted to localize to cytoplasm. Implicated in developmental and epileptic encephalopathy 36.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALG13, UDP-N-acetylglucosaminyltransferase subunit; asparagine-linked glycosylation 13 homolog; asparagine-linked glycosylation 13 homolog (S. cerevisiae); CDG1S; chromosome X open reading frame 45; CXorf45; DEE36; EIEE36; FLJ23018; GLT28D1; glycosyltransferase 28 domain-containing protein 1; hematopoietic stem/progenitor cells protein MDS031; MDS031; N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase; putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13; TDRD13; tudor domain containing 13; UDP-N-acetylglucosamine transferase subunit ALG13 homolog; YGL047W
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX111,665,811 - 111,760,649 (+)EnsemblGRCh38hg38GRCh38
GRCh38X111,680,741 - 111,764,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X110,924,398 - 111,003,877 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X110,811,091 - 110,890,528 (+)NCBINCBI36hg18NCBI36
Build 34X110,776,222 - 110,810,017NCBI
CeleraX111,403,980 - 111,483,384 (+)NCBI
Cytogenetic MapXq23NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBIHuRef
CHM1_1X110,835,765 - 110,915,121 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
N-linked glycan biosynthetic pathway  (IEA)

External Pathway Database Links

KEGG Pathway KEGG:01030
N-Glycan biosynthesis

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of lateral ventricle  (IAGP)
Adducted thumb  (IAGP)
Anteverted nares  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad nasal tip  (IAGP)
Cerebral atrophy  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Clumsiness  (IAGP)
Cognitive impairment  (IAGP)
Decreased body weight  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Epileptic encephalopathy  (IAGP)
Facial palsy  (IAGP)
Flexion contracture  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hepatomegaly  (IAGP)
Horizontal nystagmus  (IAGP)
Hydrocephalus  (IAGP)
Hypertelorism  (IAGP)
Hypsarrhythmia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Optic atrophy  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Poor eye contact  (IAGP)
Poor head control  (IAGP)
Poor speech  (IAGP)
Pyloric stenosis  (IAGP)
Recurrent infections  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short chin  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Small for gestational age  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Type I transferrin isoform profile  (IAGP)
Urinary incontinence  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:2283726   PMID:2341393   PMID:2649653   PMID:7505766   PMID:8125298   PMID:8218172   PMID:11181995   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15772651   PMID:16100110  
PMID:16341674   PMID:16344560   PMID:16713569   PMID:17686769   PMID:20301507   PMID:21873635   PMID:22492991   PMID:22681889   PMID:23686279   PMID:23827681   PMID:23934111   PMID:24255178  
PMID:24501762   PMID:24722188   PMID:24781210   PMID:25416956   PMID:26138355   PMID:26186194   PMID:26598620   PMID:26972000   PMID:28178702   PMID:28514442   PMID:28778787   PMID:28986522  
PMID:29053956   PMID:29331416   PMID:29395067   PMID:29568061   PMID:30575818   PMID:31343991   PMID:31444733   PMID:31753913   PMID:32296183   PMID:32877691  


Genomics

Comparative Map Data
ALG13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX111,665,811 - 111,760,649 (+)EnsemblGRCh38hg38GRCh38
GRCh38X111,680,741 - 111,764,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X110,924,398 - 111,003,877 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X110,811,091 - 110,890,528 (+)NCBINCBI36hg18NCBI36
Build 34X110,776,222 - 110,810,017NCBI
CeleraX111,403,980 - 111,483,384 (+)NCBI
Cytogenetic MapXq23NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBIHuRef
CHM1_1X110,835,765 - 110,915,121 (+)NCBICHM1_1
Alg13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X143,100,962 - 143,157,446 (+)NCBIGRCm39mm39
GRCm39 EnsemblX143,100,800 - 143,157,446 (+)Ensembl
GRCm38X144,317,966 - 144,374,450 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX144,317,804 - 144,374,450 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X140,752,509 - 140,759,740 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X139,564,389 - 139,571,556 (+)NCBImm8
CeleraX128,273,565 - 128,280,781 (+)NCBICelera
Cytogenetic MapXF2NCBI
Alg13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X107,885,039 - 107,906,264 (+)NCBI
Rnor_6.0 EnsemblX115,561,332 - 115,619,505 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X115,561,329 - 115,589,792 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X114,015,086 - 114,036,262 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X34,184,163 - 34,192,061 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X34,237,632 - 34,245,530 (-)NCBI
CeleraX107,272,709 - 107,280,607 (+)NCBICelera
Cytogenetic MapXq34NCBI
Alg13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554904,069,494 - 4,140,532 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554904,069,866 - 4,140,494 (-)NCBIChiLan1.0ChiLan1.0
ALG13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X111,253,622 - 111,333,184 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX111,253,717 - 111,332,534 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X100,794,882 - 100,874,083 (+)NCBIMhudiblu_PPA_v0panPan3
ALG13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X84,752,284 - 84,825,414 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX70,852,109 - 70,924,713 (+)NCBI
ROS_Cfam_1.0X86,425,623 - 86,498,203 (+)NCBI
UMICH_Zoey_3.1X83,895,941 - 83,968,534 (+)NCBI
UNSW_CanFamBas_1.0X85,574,971 - 85,646,626 (+)NCBI
UU_Cfam_GSD_1.0X85,410,651 - 85,483,568 (+)NCBI
Alg13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X84,028,385 - 84,099,674 (+)NCBI
SpeTri2.0NW_0049364993,558,273 - 3,629,570 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALG13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X91,644,586 - 91,708,695 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X106,059,991 - 106,123,564 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ALG13
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X99,453,714 - 99,535,658 (+)NCBI
ChlSab1.1 EnsemblX99,453,810 - 99,535,654 (+)Ensembl
Alg13
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248033,826,205 - 3,908,718 (-)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4588
Count of miRNA genes:1153
Interacting mature miRNAs:1424
Transcripts:ENST00000251943, ENST00000371979, ENST00000394780, ENST00000436609, ENST00000460092, ENST00000461669, ENST00000468657, ENST00000470704, ENST00000470971, ENST00000471924, ENST00000473389, ENST00000474121, ENST00000482374, ENST00000482742, ENST00000485371, ENST00000486353, ENST00000486578, ENST00000487141, ENST00000487243, ENST00000489033, ENST00000490774, ENST00000492038, ENST00000495283
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1510 1230 1105 172 1105 90 2830 641 1272 209 1319 1423 90 878 1614 3
Low 929 1735 621 451 822 375 1526 1556 2461 209 138 190 83 1 326 1174 2 1
Below cutoff 24 24 1 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001099922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF220051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL524204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE747995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF239206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF240663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF699152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG621042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM759764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP344481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ007420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ015240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB268871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA830058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB292609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB516751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC400909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN992019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000251943   ⟹   ENSP00000251943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,170 - 111,760,645 (+)Ensembl
RefSeq Acc Id: ENST00000371979   ⟹   ENSP00000361047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,118 - 111,690,172 (+)Ensembl
RefSeq Acc Id: ENST00000394780   ⟹   ENSP00000378260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,170 - 111,760,649 (+)Ensembl
RefSeq Acc Id: ENST00000436609   ⟹   ENSP00000392990
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,657 - 111,760,649 (+)Ensembl
RefSeq Acc Id: ENST00000460092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,727,643 - 111,736,879 (+)Ensembl
RefSeq Acc Id: ENST00000461669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,737,027 - 111,760,161 (+)Ensembl
RefSeq Acc Id: ENST00000468657   ⟹   ENSP00000480638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,179 - 111,688,254 (+)Ensembl
RefSeq Acc Id: ENST00000470704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,688,727 - 111,709,029 (+)Ensembl
RefSeq Acc Id: ENST00000470971   ⟹   ENSP00000479424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,207 - 111,760,649 (+)Ensembl
RefSeq Acc Id: ENST00000471924   ⟹   ENSP00000484523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,267 - 111,708,166 (+)Ensembl
RefSeq Acc Id: ENST00000473389   ⟹   ENSP00000480711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,189 - 111,688,128 (+)Ensembl
RefSeq Acc Id: ENST00000474121   ⟹   ENSP00000485400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,744,846 - 111,753,166 (+)Ensembl
RefSeq Acc Id: ENST00000482374   ⟹   ENSP00000479632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,192 - 111,688,134 (+)Ensembl
RefSeq Acc Id: ENST00000482742   ⟹   ENSP00000477513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,663 - 111,688,040 (+)Ensembl
RefSeq Acc Id: ENST00000485371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,752,746 - 111,759,804 (+)Ensembl
RefSeq Acc Id: ENST00000486353   ⟹   ENSP00000426892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,198 - 111,708,998 (+)Ensembl
RefSeq Acc Id: ENST00000486578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,727,419 - 111,736,933 (+)Ensembl
RefSeq Acc Id: ENST00000487141   ⟹   ENSP00000478130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,665,811 - 111,713,297 (+)Ensembl
RefSeq Acc Id: ENST00000487243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,757,278 - 111,759,899 (+)Ensembl
RefSeq Acc Id: ENST00000489033   ⟹   ENSP00000482257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,216 - 111,688,219 (+)Ensembl
RefSeq Acc Id: ENST00000490774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,718,219 - 111,723,881 (+)Ensembl
RefSeq Acc Id: ENST00000492038   ⟹   ENSP00000479483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,194 - 111,688,642 (+)Ensembl
RefSeq Acc Id: ENST00000495283   ⟹   ENSP00000427093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,198 - 111,760,016 (+)Ensembl
RefSeq Acc Id: ENST00000610588   ⟹   ENSP00000479731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,170 - 111,760,645 (+)Ensembl
RefSeq Acc Id: ENST00000621367   ⟹   ENSP00000481509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,170 - 111,760,645 (+)Ensembl
RefSeq Acc Id: ENST00000622986   ⟹   ENSP00000485067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,195 - 111,685,278 (+)Ensembl
RefSeq Acc Id: ENST00000622997   ⟹   ENSP00000485420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,170 - 111,713,261 (+)Ensembl
RefSeq Acc Id: ENST00000623144   ⟹   ENSP00000485279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,204 - 111,760,375 (+)Ensembl
RefSeq Acc Id: ENST00000623148   ⟹   ENSP00000485658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,267 - 111,760,256 (+)Ensembl
RefSeq Acc Id: ENST00000623189   ⟹   ENSP00000485392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,813 - 111,688,132 (+)Ensembl
RefSeq Acc Id: ENST00000623255   ⟹   ENSP00000485333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,234 - 111,688,097 (+)Ensembl
RefSeq Acc Id: ENST00000623310   ⟹   ENSP00000485071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,759,812 - 111,760,649 (+)Ensembl
RefSeq Acc Id: ENST00000623622   ⟹   ENSP00000485624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,717,879 - 111,728,270 (+)Ensembl
RefSeq Acc Id: ENST00000624161   ⟹   ENSP00000485181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,176 - 111,760,644 (+)Ensembl
RefSeq Acc Id: ENST00000624881   ⟹   ENSP00000485093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,179 - 111,712,493 (+)Ensembl
RefSeq Acc Id: ENST00000635768
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,713,242 - 111,714,289 (+)Ensembl
RefSeq Acc Id: ENST00000635824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,730,536 - 111,734,411 (+)Ensembl
RefSeq Acc Id: ENST00000635931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,736,835 - 111,743,854 (+)Ensembl
RefSeq Acc Id: ENST00000636363   ⟹   ENSP00000490681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,681,179 - 111,760,583 (+)Ensembl
RefSeq Acc Id: ENST00000637022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,734,377 - 111,735,083 (+)Ensembl
RefSeq Acc Id: ENST00000637213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,736,847 - 111,737,048 (+)Ensembl
RefSeq Acc Id: NM_001039210   ⟹   NP_001034299
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,690,172 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,765 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001099922   ⟹   NP_001093392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,760,649 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,765 - 110,915,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001168385   ⟹   NP_001161857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,690,172 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,765 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257230   ⟹   NP_001244159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,760,649 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,765 - 110,915,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257231   ⟹   NP_001244160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,760,649 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,817 - 110,915,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257234   ⟹   NP_001244163
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,760,649 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,817 - 110,915,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257235   ⟹   NP_001244164
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,690,172 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,817 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257237   ⟹   NP_001244166
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,760,649 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,817 - 110,915,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257239   ⟹   NP_001244168
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,657 - 111,690,172 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,836,304 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257240   ⟹   NP_001244169
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,690,172 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,817 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257241   ⟹   NP_001244170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,690,172 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,817 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324290   ⟹   NP_001311219
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,690,172 (+)NCBI
CHM1_1X110,835,765 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324291   ⟹   NP_001311220
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,690,172 (+)NCBI
CHM1_1X110,835,765 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324292   ⟹   NP_001311221
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,760,649 (+)NCBI
CHM1_1X110,835,765 - 110,915,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324293   ⟹   NP_001311222
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,760,649 (+)NCBI
CHM1_1X110,835,817 - 110,915,121 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324294   ⟹   NP_001311223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,657 - 111,690,172 (+)NCBI
CHM1_1X110,836,304 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018466   ⟹   NP_060936
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,690,172 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,765 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033125
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,690,172 (+)NCBI
HuRefX100,545,131 - 100,625,338 (+)NCBI
CHM1_1X110,835,765 - 110,843,447 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136735
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,690,172 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148693
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,760,649 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724693   ⟹   XP_006724756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,744 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724697   ⟹   XP_006724760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,741 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724698   ⟹   XP_006724761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,741 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531028   ⟹   XP_011529330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,744 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531030   ⟹   XP_011529332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,745 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531031   ⟹   XP_011529333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,170 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531032   ⟹   XP_011529334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,662 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531033   ⟹   XP_011529335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,662 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531034   ⟹   XP_011529336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,689,101 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531037   ⟹   XP_011529339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,718,229 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029846   ⟹   XP_016885335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,743 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029847   ⟹   XP_016885336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,744 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029848   ⟹   XP_016885337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,746 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029849   ⟹   XP_016885338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,745 - 111,737,081 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029850   ⟹   XP_016885339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,746 - 111,743,884 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029851   ⟹   XP_016885340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,743 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029852   ⟹   XP_016885341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,716,953 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029853   ⟹   XP_016885342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,708,246 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029854   ⟹   XP_016885343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,723,911 - 111,764,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029855   ⟹   XP_016885344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,711,751 - 111,760,644 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452449   ⟹   XP_024308217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,680,748 - 111,737,080 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755726
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,179 - 111,718,227 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755727
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,179 - 111,712,511 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755728
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,179 - 111,717,896 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001034299 (Get FASTA)   NCBI Sequence Viewer  
  NP_001093392 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161857 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244159 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244160 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244163 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244164 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244166 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244168 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244169 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244170 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311219 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311220 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311221 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311222 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311223 (Get FASTA)   NCBI Sequence Viewer  
  NP_060936 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724756 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724760 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724761 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529330 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529332 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529333 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529334 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529335 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529336 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529339 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885335 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885336 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885337 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885338 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885339 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885340 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885341 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885342 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885343 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885344 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308217 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF67644 (Get FASTA)   NCBI Sequence Viewer  
  AAH05336 (Get FASTA)   NCBI Sequence Viewer  
  AAI17378 (Get FASTA)   NCBI Sequence Viewer  
  AAI17380 (Get FASTA)   NCBI Sequence Viewer  
  BAB15521 (Get FASTA)   NCBI Sequence Viewer  
  BAD96874 (Get FASTA)   NCBI Sequence Viewer  
  BAG35162 (Get FASTA)   NCBI Sequence Viewer  
  BAH13276 (Get FASTA)   NCBI Sequence Viewer  
  BAH13790 (Get FASTA)   NCBI Sequence Viewer  
  BAH13833 (Get FASTA)   NCBI Sequence Viewer  
  BAH14244 (Get FASTA)   NCBI Sequence Viewer  
  BAH14677 (Get FASTA)   NCBI Sequence Viewer  
  BAH14893 (Get FASTA)   NCBI Sequence Viewer  
  EAX02634 (Get FASTA)   NCBI Sequence Viewer  
  EAX02635 (Get FASTA)   NCBI Sequence Viewer  
  EAX02636 (Get FASTA)   NCBI Sequence Viewer  
  EAX02637 (Get FASTA)   NCBI Sequence Viewer  
  Q9NP73 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001093392   ⟸   NM_001099922
- Peptide Label: isoform 1
- UniProtKB: Q9NP73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244159   ⟸   NM_001257230
- Peptide Label: isoform 5
- UniProtKB: Q9NP73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161857   ⟸   NM_001168385
- Peptide Label: isoform 4
- UniProtKB: Q9NP73 (UniProtKB/Swiss-Prot),   A0A087WX43 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_060936   ⟸   NM_018466
- Peptide Label: isoform 2
- UniProtKB: Q9NP73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001034299   ⟸   NM_001039210
- Peptide Label: isoform 3
- UniProtKB: Q9NP73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244166   ⟸   NM_001257237
- Peptide Label: isoform 5
- UniProtKB: Q9NP73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244160   ⟸   NM_001257231
- Peptide Label: isoform 6
- UniProtKB: Q9NP73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244163   ⟸   NM_001257234
- Peptide Label: isoform 5
- UniProtKB: Q9NP73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244169   ⟸   NM_001257240
- Peptide Label: isoform 7
- UniProtKB: A0A087WT15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244170   ⟸   NM_001257241
- Peptide Label: isoform 8
- UniProtKB: Q9NP73 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244164   ⟸   NM_001257235
- Peptide Label: isoform 7
- UniProtKB: A0A087WT15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244168   ⟸   NM_001257239
- Peptide Label: isoform 7
- UniProtKB: A0A087WT15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724761   ⟸   XM_006724698
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006724760   ⟸   XM_006724697
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006724756   ⟸   XM_006724693
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011529330   ⟸   XM_011531028
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529332   ⟸   XM_011531030
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011529333   ⟸   XM_011531031
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011529334   ⟸   XM_011531032
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011529335   ⟸   XM_011531033
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011529336   ⟸   XM_011531034
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011529339   ⟸   XM_011531037
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: NP_001311221   ⟸   NM_001324292
- Peptide Label: isoform 10
- Sequence:
RefSeq Acc Id: NP_001311219   ⟸   NM_001324290
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: NP_001311220   ⟸   NM_001324291
- Peptide Label: isoform 7
- UniProtKB: A0A087WT15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311222   ⟸   NM_001324293
- Peptide Label: isoform 11
- Sequence:
RefSeq Acc Id: NP_001311223   ⟸   NM_001324294
- Peptide Label: isoform 7
- UniProtKB: A0A087WT15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885340   ⟸   XM_017029851
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016885335   ⟸   XM_017029846
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885336   ⟸   XM_017029847
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885338   ⟸   XM_017029849
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016885337   ⟸   XM_017029848
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016885339   ⟸   XM_017029850
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016885342   ⟸   XM_017029853
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016885344   ⟸   XM_017029855
- Peptide Label: isoform X17
- Sequence:
RefSeq Acc Id: XP_016885341   ⟸   XM_017029852
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016885343   ⟸   XM_017029854
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: XP_024308217   ⟸   XM_024452449
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: ENSP00000361047   ⟸   ENST00000371979
RefSeq Acc Id: ENSP00000481509   ⟸   ENST00000621367
RefSeq Acc Id: ENSP00000490681   ⟸   ENST00000636363
RefSeq Acc Id: ENSP00000485067   ⟸   ENST00000622986
RefSeq Acc Id: ENSP00000485420   ⟸   ENST00000622997
RefSeq Acc Id: ENSP00000485071   ⟸   ENST00000623310
RefSeq Acc Id: ENSP00000485333   ⟸   ENST00000623255
RefSeq Acc Id: ENSP00000485279   ⟸   ENST00000623144
RefSeq Acc Id: ENSP00000485658   ⟸   ENST00000623148
RefSeq Acc Id: ENSP00000485392   ⟸   ENST00000623189
RefSeq Acc Id: ENSP00000485624   ⟸   ENST00000623622
RefSeq Acc Id: ENSP00000485181   ⟸   ENST00000624161
RefSeq Acc Id: ENSP00000479483   ⟸   ENST00000492038
RefSeq Acc Id: ENSP00000485093   ⟸   ENST00000624881
RefSeq Acc Id: ENSP00000479731   ⟸   ENST00000610588
RefSeq Acc Id: ENSP00000480638   ⟸   ENST00000468657
RefSeq Acc Id: ENSP00000427093   ⟸   ENST00000495283
RefSeq Acc Id: ENSP00000479632   ⟸   ENST00000482374
RefSeq Acc Id: ENSP00000477513   ⟸   ENST00000482742
RefSeq Acc Id: ENSP00000479424   ⟸   ENST00000470971
RefSeq Acc Id: ENSP00000484523   ⟸   ENST00000471924
RefSeq Acc Id: ENSP00000426892   ⟸   ENST00000486353
RefSeq Acc Id: ENSP00000478130   ⟸   ENST00000487141
RefSeq Acc Id: ENSP00000378260   ⟸   ENST00000394780
RefSeq Acc Id: ENSP00000480711   ⟸   ENST00000473389
RefSeq Acc Id: ENSP00000485400   ⟸   ENST00000474121
RefSeq Acc Id: ENSP00000482257   ⟸   ENST00000489033
RefSeq Acc Id: ENSP00000392990   ⟸   ENST00000436609
RefSeq Acc Id: ENSP00000251943   ⟸   ENST00000251943
Protein Domains
Glyco_tran_28_C   OTU   Tudor

Promoters
RGD ID:13627882
Promoter ID:EPDNEW_H29217
Type:initiation region
Name:ALG13_1
Description:ALG13, UDP-N-acetylglucosaminyltransferase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29216  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,681,179 - 111,681,239EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001099922.3(ALG13):c.1824C>T (p.Asp608=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000552005] ChrX:111726903 [GRCh38]
ChrX:110970131 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001082433]|not provided [RCV000560283]|not specified [RCV000518034] ChrX:111727368 [GRCh38]
ChrX:110970596 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000032994] ChrX:111685000 [GRCh38]
ChrX:110928228 [GRCh37]
ChrX:Xq23
pathogenic
NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) single nucleotide variant Global developmental delay [RCV000735326] ChrX:111681268 [GRCh38]
ChrX:110924496 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001099922.3(ALG13):c.653A>G (p.Asn218Ser) single nucleotide variant not provided [RCV000520839] ChrX:111708296 [GRCh38]
ChrX:110951524 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000056321]|Intellectual disability [RCV001249505]|Rare genetic intellectual disability [RCV001256982]|Seizures [RCV001263094]|not provided [RCV000289979] ChrX:111685040 [GRCh38]
ChrX:110928268 [GRCh37]
ChrX:Xq23
pathogenic
NM_001099922.3(ALG13):c.383+2821_383+2822delinsTT indel Focal segmental glomerulosclerosis [RCV000074395] ChrX:111687924..111687925 [GRCh38]
ChrX:110931152..110931153 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.2(ALG13):c.3148+49G>T single nucleotide variant Lung cancer [RCV000102182] ChrX:111757811 [GRCh38]
ChrX:111001039 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001099922.3(ALG13):c.2222A>G (p.Asp741Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001209352] ChrX:111727745 [GRCh38]
ChrX:110970973 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.230T>C (p.Val77Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001253181] ChrX:111682280 [GRCh38]
ChrX:110925508 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001099922.3(ALG13):c.298A>G (p.Ile100Val) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001004760] ChrX:111685018 [GRCh38]
ChrX:110928246 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg) single nucleotide variant Inborn genetic diseases [RCV000190689] ChrX:111727629 [GRCh38]
ChrX:110970857 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001222392]|not specified [RCV000202876] ChrX:111730557 [GRCh38]
ChrX:110973785 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001099922.3(ALG13):c.2754_2756ACC[16] (p.Pro945dup) microsatellite not provided [RCV000176464] ChrX:111744725..111744726 [GRCh38]
ChrX:110987953..110987954 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000545666]|not provided [RCV000710506]|not specified [RCV001192895] ChrX:111757589 [GRCh38]
ChrX:111000817 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001099922.3(ALG13):c.3301G>T (p.Val1101Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001221357] ChrX:111759886 [GRCh38]
ChrX:111003114 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000550980] ChrX:111685093 [GRCh38]
ChrX:110928321 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000230246]|not provided [RCV000523188] ChrX:111727736 [GRCh38]
ChrX:110970964 [GRCh37]
ChrX:Xq23
likely benign|uncertain significance
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001080611]|History of neurodevelopmental disorder [RCV000715376]|not provided [RCV000710502]|not specified [RCV000429737] ChrX:111682233 [GRCh38]
ChrX:110925461 [GRCh37]
ChrX:Xq23
benign
NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000231686]|History of neurodevelopmental disorder [RCV000716885]|not provided [RCV000862962] ChrX:111736757 [GRCh38]
ChrX:110979985 [GRCh37]
ChrX:Xq23
benign|uncertain significance
NM_001099922.3(ALG13):c.2797_2799CCT[11] (p.Pro944_Pro945del) microsatellite Epileptic encephalopathy, early infantile, 36 [RCV000229502] ChrX:111744769..111744774 [GRCh38]
ChrX:110987997..110988002 [GRCh37]
ChrX:Xq23
conflicting interpretations of pathogenicity|uncertain significance
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000232426]|History of neurodevelopmental disorder [RCV000716051]|not specified [RCV000444513] ChrX:111720110 [GRCh38]
ChrX:110963338 [GRCh37]
ChrX:Xq23
benign
NM_001099922.3(ALG13):c.2797_2799CCT[12] (p.Pro945del) microsatellite Epileptic encephalopathy, early infantile, 36 [RCV000233489]|not provided [RCV000861264] ChrX:111744769..111744771 [GRCh38]
ChrX:110987997..110987999 [GRCh37]
ChrX:Xq23
benign|uncertain significance
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000226645]|History of neurodevelopmental disorder [RCV000718648]|not specified [RCV000430319] ChrX:111736856 [GRCh38]
ChrX:110980084 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001099922.2(ALG13):c.2797_2802delCCTCCT (p.Pro944_Pro945del) deletion Epileptic encephalopathy, early infantile, 36 [RCV000626279] ChrX:111744769..111744774 [GRCh38]
ChrX:110987997..110988002 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001099922.3(ALG13):c.2252A>T (p.His751Leu) single nucleotide variant not provided [RCV000522460] ChrX:111728189 [GRCh38]
ChrX:110971417 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr) single nucleotide variant not provided [RCV000521384] ChrX:111736823 [GRCh38]
ChrX:110980051 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000524738]|not provided [RCV000316996] ChrX:111717904 [GRCh38]
ChrX:110961132 [GRCh37]
ChrX:Xq23
benign|uncertain significance
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp) single nucleotide variant not provided [RCV000352166] ChrX:111708295 [GRCh38]
ChrX:110951523 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.1910T>C (p.Met637Thr) single nucleotide variant not specified [RCV000325660] ChrX:111726989 [GRCh38]
ChrX:110970217 [GRCh37]
ChrX:Xq23
likely benign|uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001099922.3(ALG13):c.886-19A>G single nucleotide variant not specified [RCV000604847] ChrX:111712465 [GRCh38]
ChrX:110955693 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.1976+20G>A single nucleotide variant not specified [RCV000601529] ChrX:111727075 [GRCh38]
ChrX:110970303 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) microsatellite Epileptic encephalopathy, early infantile, 36 [RCV000785080]|not provided [RCV000724436]|not specified [RCV000595959] ChrX:111744726..111744728 [GRCh38]
ChrX:110987954..110987956 [GRCh37]
ChrX:Xq23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001099922.3(ALG13):c.128G>A (p.Arg43Lys) single nucleotide variant not provided [RCV000415774] ChrX:111682178 [GRCh38]
ChrX:110925406 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.411G>C (p.Lys137Asn) single nucleotide variant Epileptic encephalopathy [RCV000415213] ChrX:111708054 [GRCh38]
ChrX:110951282 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000650333]|not specified [RCV000413835] ChrX:111720148 [GRCh38]
ChrX:110963376 [GRCh37]
ChrX:Xq23
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-23(chrX:107370001-110989043)x1 copy number loss See cases [RCV000447004] ChrX:107370001..110989043 [GRCh37]
ChrX:Xq22.3-23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001099922.3(ALG13):c.273A>G (p.Glu91=) single nucleotide variant not specified [RCV000417416] ChrX:111684993 [GRCh38]
ChrX:110928221 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000545605]|not specified [RCV000427327] ChrX:111727001 [GRCh38]
ChrX:110970229 [GRCh37]
ChrX:Xq23
likely benign|uncertain significance
NM_001099922.3(ALG13):c.1087+18A>G single nucleotide variant not specified [RCV000427344] ChrX:111717945 [GRCh38]
ChrX:110961173 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2933-15G>T single nucleotide variant not specified [RCV000441450] ChrX:111752775 [GRCh38]
ChrX:110996003 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) single nucleotide variant not specified [RCV000431199] ChrX:111682200 [GRCh38]
ChrX:110925428 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val) single nucleotide variant History of neurodevelopmental disorder [RCV000717377]|not specified [RCV000434428] ChrX:111726910 [GRCh38]
ChrX:110970138 [GRCh37]
ChrX:Xq23
likely benign|uncertain significance
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn) single nucleotide variant not provided [RCV000437840] ChrX:111681292 [GRCh38]
ChrX:110924520 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys) single nucleotide variant not specified [RCV000437984] ChrX:111759806 [GRCh38]
ChrX:111003034 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2082T>C (p.Tyr694=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000861114]|not specified [RCV000441681] ChrX:111727437 [GRCh38]
ChrX:110970665 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2973+20T>A single nucleotide variant not specified [RCV000445179] ChrX:111752850 [GRCh38]
ChrX:110996078 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu) single nucleotide variant not provided [RCV000424107] ChrX:111728246 [GRCh38]
ChrX:110971474 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.2385A>G (p.Glu795=) single nucleotide variant not specified [RCV000427789] ChrX:111730411 [GRCh38]
ChrX:110973639 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000530576]|not specified [RCV000431546] ChrX:111726922 [GRCh38]
ChrX:110970150 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val) single nucleotide variant not provided [RCV000445340] ChrX:111708062 [GRCh38]
ChrX:110951290 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001081537]|not provided [RCV000560629]|not specified [RCV000438406] ChrX:111757622 [GRCh38]
ChrX:111000850 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) single nucleotide variant not provided [RCV000866342]|not specified [RCV000421099] ChrX:111736838 [GRCh38]
ChrX:110980066 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000459668]|not specified [RCV000421106] ChrX:111757653 [GRCh38]
ChrX:111000881 [GRCh37]
ChrX:Xq23
benign
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001345093]|not specified [RCV000438664] ChrX:111720157 [GRCh38]
ChrX:110963385 [GRCh37]
ChrX:Xq23
likely benign|uncertain significance
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001080953]|not provided [RCV000470814]|not specified [RCV000442335] ChrX:111757757 [GRCh38]
ChrX:111000985 [GRCh37]
ChrX:Xq23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001099922.3(ALG13):c.2248-11C>T single nucleotide variant not specified [RCV000442347] ChrX:111728174 [GRCh38]
ChrX:110971402 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.-27G>A single nucleotide variant not specified [RCV000424752] ChrX:111681192 [GRCh38]
ChrX:110924420 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000548353]|not specified [RCV000428376] ChrX:111708281 [GRCh38]
ChrX:110951509 [GRCh37]
ChrX:Xq23
benign|likely benign|uncertain significance
NM_001099922.3(ALG13):c.1006-14G>A single nucleotide variant not specified [RCV000435328] ChrX:111717832 [GRCh38]
ChrX:110961060 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.886-17A>G single nucleotide variant not specified [RCV000438884] ChrX:111712467 [GRCh38]
ChrX:110955695 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000862719]|History of neurodevelopmental disorder [RCV000718000]|not specified [RCV000418963] ChrX:111757707 [GRCh38]
ChrX:111000935 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.486T>C (p.Phe162=) single nucleotide variant not specified [RCV000428716] ChrX:111708129 [GRCh38]
ChrX:110951357 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000457837]|History of neurodevelopmental disorder [RCV000716660]|not specified [RCV000419058] ChrX:111723888 [GRCh38]
ChrX:110967116 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001215933]|not specified [RCV000432277] ChrX:111726892 [GRCh38]
ChrX:110970120 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala) single nucleotide variant not specified [RCV000435627] ChrX:111728203 [GRCh38]
ChrX:110971431 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2401+12C>A single nucleotide variant not specified [RCV000435725] ChrX:111730439 [GRCh38]
ChrX:110973667 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_001099922.3(ALG13):c.355G>C (p.Glu119Gln) single nucleotide variant not provided [RCV000419258] ChrX:111685075 [GRCh38]
ChrX:110928303 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.383+1029A>G single nucleotide variant not provided [RCV000710507]|not specified [RCV000429193] ChrX:111686132 [GRCh38]
ChrX:110929360 [GRCh37]
ChrX:Xq23
benign
NM_001099922.3(ALG13):c.-7C>T single nucleotide variant not specified [RCV000422180] ChrX:111681212 [GRCh38]
ChrX:110924440 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.337G>A (p.Ala113Thr) single nucleotide variant not provided [RCV000425719] ChrX:111685057 [GRCh38]
ChrX:110928285 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=) single nucleotide variant History of neurodevelopmental disorder [RCV000715594]|not specified [RCV000429370] ChrX:111720137 [GRCh38]
ChrX:110963365 [GRCh37]
ChrX:Xq23
benign
NM_001099922.3(ALG13):c.-9A>G single nucleotide variant not specified [RCV000422420] ChrX:111681210 [GRCh38]
ChrX:110924438 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001080168]|History of neurodevelopmental disorder [RCV000715608]|not provided [RCV000710501]|not specified [RCV000439924] ChrX:111718176 [GRCh38]
ChrX:110961404 [GRCh37]
ChrX:Xq23
benign
NM_001099922.3(ALG13):c.1435+5A>T single nucleotide variant History of neurodevelopmental disorder [RCV000715613]|not specified [RCV000440062] ChrX:111721716 [GRCh38]
ChrX:110964944 [GRCh37]
ChrX:Xq23
benign
NM_001099922.3(ALG13):c.2248-4A>G single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000463027]|History of neurodevelopmental disorder [RCV000716626]|not specified [RCV000419937] ChrX:111728181 [GRCh38]
ChrX:110971409 [GRCh37]
ChrX:Xq23
benign
NM_001099922.3(ALG13):c.588T>G (p.Pro196=) single nucleotide variant not specified [RCV000433008] ChrX:111708231 [GRCh38]
ChrX:110951459 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.383+1033G>A single nucleotide variant not provided [RCV001311097]|not specified [RCV000436670] ChrX:111686136 [GRCh38]
ChrX:110929364 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2695+15G>C single nucleotide variant not specified [RCV000429969] ChrX:111736894 [GRCh38]
ChrX:110980122 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.360T>C (p.Gly120=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000877451]|not specified [RCV000436856] ChrX:111685080 [GRCh38]
ChrX:110928308 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.1601+11G>A single nucleotide variant not specified [RCV000430234] ChrX:111723909 [GRCh38]
ChrX:110967137 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001081689]|not provided [RCV000862718]|not specified [RCV000440758] ChrX:111744870 [GRCh38]
ChrX:110988098 [GRCh37]
ChrX:Xq23
benign
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000650351]|not specified [RCV000444391] ChrX:111759999 [GRCh38]
ChrX:111003227 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000650340]|not provided [RCV000420228] ChrX:111718241 [GRCh38]
ChrX:110961469 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000468916]|not specified [RCV000420341] ChrX:111727425 [GRCh38]
ChrX:110970653 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.1349T>C (p.Met450Thr) single nucleotide variant not provided [RCV000426764] ChrX:111721625 [GRCh38]
ChrX:110964853 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.1327-19A>G single nucleotide variant not specified [RCV000426795] ChrX:111721584 [GRCh38]
ChrX:110964812 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.886-16C>A single nucleotide variant not specified [RCV000437367] ChrX:111712468 [GRCh38]
ChrX:110955696 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001099922.3(ALG13):c.59T>C (p.Val20Ala) single nucleotide variant not provided [RCV000437421] ChrX:111681277 [GRCh38]
ChrX:110924505 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.3297T>A (p.His1099Gln) single nucleotide variant not provided [RCV000441180] ChrX:111759882 [GRCh38]
ChrX:111003110 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.2754A>G (p.Leu918=) single nucleotide variant not specified [RCV000444666] ChrX:111744726 [GRCh38]
ChrX:110987954 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001081461]|History of neurodevelopmental disorder [RCV000715685]|not provided [RCV000456721]|not specified [RCV000602046] ChrX:111736801 [GRCh38]
ChrX:110980029 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.452C>T (p.Ala151Val) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000464175] ChrX:111708095 [GRCh38]
ChrX:110951323 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000464455] ChrX:111757672 [GRCh38]
ChrX:111000900 [GRCh37]
ChrX:Xq23
benign
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000469041]|not specified [RCV000482857] ChrX:111730526 [GRCh38]
ChrX:110973754 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001262121]|not provided [RCV000481128] ChrX:111682291 [GRCh38]
ChrX:110925519 [GRCh37]
ChrX:Xq23
pathogenic|uncertain significance
NM_001099922.3(ALG13):c.751-8_751-6del microsatellite Epileptic encephalopathy, early infantile, 36 [RCV000473684]|not specified [RCV000486646] ChrX:111708953..111708955 [GRCh38]
ChrX:110952181..110952183 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.2369-4_2369-3del deletion not specified [RCV000486262] ChrX:111730389..111730390 [GRCh38]
ChrX:110973617..110973618 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000862700]|not specified [RCV000482258] ChrX:111735078 [GRCh38]
ChrX:110978306 [GRCh37]
ChrX:Xq23
likely benign|uncertain significance
NM_001099922.3(ALG13):c.2457+15_2457+17del microsatellite not specified [RCV000482262] ChrX:111730590..111730592 [GRCh38]
ChrX:110973818..110973820 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2754_2756ACC[11] (p.Pro942_Pro945del) microsatellite Epileptic encephalopathy, early infantile, 36 [RCV001033977]|not specified [RCV000478050] ChrX:111744726..111744737 [GRCh38]
ChrX:110987954..110987965 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.2842G>A (p.Asp948Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV001351949]|not provided [RCV000478065] ChrX:111744814 [GRCh38]
ChrX:110988042 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000469603]|not specified [RCV000604590] ChrX:111744771 [GRCh38]
ChrX:110987999 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000549460]|not provided [RCV000482872] ChrX:111757744 [GRCh38]
ChrX:111000972 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001099922.3(ALG13):c.2205T>C (p.Tyr735=) single nucleotide variant not provided [RCV000458577] ChrX:111727728 [GRCh38]
ChrX:110970956 [GRCh37]
ChrX:Xq23
likely benign
NM_001099922.3(ALG13):c.384-5C>T single nucleotide variant Epileptic encephalopathy, early infantile, 36 [RCV000473645]|not specified [RCV000608660] ChrX:111708022 [GRCh38]
ChrX:110951250 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001099922.3(ALG13):c.2380_2382GAA[1] (p.Glu795del) microsatellite Epileptic encephalopathy, early infantile, 36 [RCV001080879]|not provided [RCV000710504]|not specified [RCV000613280] ChrX:111730406..111730408 [GRCh38]
ChrX:110973634..110973636 [GRCh37]
ChrX:Xq23
benign|likely benign