PHKA2 (phosphorylase kinase regulatory subunit alpha 2) - Rat Genome Database

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Gene: PHKA2 (phosphorylase kinase regulatory subunit alpha 2) Homo sapiens
Analyze
Symbol: PHKA2
Name: phosphorylase kinase regulatory subunit alpha 2
RGD ID: 1344785
HGNC Page HGNC
Description: Predicted to have phosphorylase kinase activity. Predicted to be involved in cellular protein modification process and glycogen catabolic process. Predicted to localize to phosphorylase kinase complex. Implicated in glycogen storage disease and glycogen storage disease IXa.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GSD9A; MGC133071; PHK; phosphorylase b kinase regulatory subunit alpha liver isoform; phosphorylase b kinase regulatory subunit alpha, liver isoform; phosphorylase kinase alpha L subunit; phosphorylase kinase alpha-subunit; phosphorylase kinase, alpha 2 (liver); PYK; PYKL; XLG; XLG2
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 EnsemblX18,892,298 - 18,984,114 (-)EnsemblGRCh38hg38GRCh38
GRCh38X18,892,298 - 18,984,114 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X18,910,416 - 19,002,232 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,820,793 - 18,912,097 (-)NCBINCBI36hg18NCBI36
Build 34X18,670,535 - 18,761,833NCBI
CeleraX23,030,465 - 23,122,476 (-)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX16,663,307 - 16,754,925 (-)NCBIHuRef
CHM1_1X18,941,491 - 19,033,554 (-)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
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal erythrocyte enzyme level  (IAGP)
Abnormality of neuronal migration  (IAGP)
Anemia  (IAGP)
Cardiomyopathy  (IAGP)
Cholestasis  (IAGP)
Cirrhosis  (IAGP)
Delayed gross motor development  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Diarrhea  (IAGP)
Dysmenorrhea  (IAGP)
Elevated hepatic transaminase  (IAGP)
Elevated serum alanine aminotransferase  (IAGP)
Elevated serum aspartate aminotransferase  (IAGP)
Elevated serum creatine kinase  (IAGP)
Esophageal varix  (IAGP)
Exercise intolerance  (IAGP)
Failure to thrive  (IAGP)
Fasting hypoglycemia  (IAGP)
Fatigue  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatic steatosis  (IAGP)
Hepatocellular adenoma  (IAGP)
Hepatomegaly  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperketonemia  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypoglycemia  (IAGP)
Hypotonia  (IAGP)
Increased body weight  (IAGP)
Increased hepatic glycogen content  (IAGP)
Increased sarcoplasmic glycogen  (IAGP)
Intellectual disability  (IAGP)
Ketosis  (IAGP)
Lactic acidosis  (IAGP)
Motor delay  (IAGP)
Muscle spasm  (IAGP)
Myalgia  (IAGP)
Myoglobinuria  (IAGP)
Nausea  (IAGP)
Oligomenorrhea  (IAGP)
Osteoporosis  (IAGP)
Polycystic ovaries  (IAGP)
Portal fibrosis  (IAGP)
Progressive muscle weakness  (IAGP)
Recurrent infections  (IAGP)
Renal tubular acidosis  (IAGP)
Schizophrenia  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep disturbance  (IAGP)
Splenomegaly  (IAGP)
Vomiting  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1372435   PMID:1505214   PMID:1872871   PMID:2303074   PMID:2387090   PMID:5306139   PMID:7549948   PMID:7847371   PMID:8226841   PMID:8518797   PMID:8733133   PMID:9600238  
PMID:9835437   PMID:10330341   PMID:12477932   PMID:12620389   PMID:12862311   PMID:12876330   PMID:14684825   PMID:14702039   PMID:15231748   PMID:15489334   PMID:15772651   PMID:15851553  
PMID:16051665   PMID:16565220   PMID:16600665   PMID:17581768   PMID:17620599   PMID:17689125   PMID:18950708   PMID:20360068   PMID:21131218   PMID:21634085   PMID:21857251   PMID:21873635  
PMID:21911307   PMID:22939629   PMID:23443559   PMID:23455922   PMID:25476789   PMID:25609649   PMID:26186194   PMID:26496610   PMID:27103379   PMID:27432908   PMID:28514442   PMID:30021884  
PMID:30925902   PMID:30945288   PMID:31091453   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
PHKA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX18,892,298 - 18,984,114 (-)EnsemblGRCh38hg38GRCh38
GRCh38X18,892,298 - 18,984,114 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X18,910,416 - 19,002,232 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,820,793 - 18,912,097 (-)NCBINCBI36hg18NCBI36
Build 34X18,670,535 - 18,761,833NCBI
CeleraX23,030,465 - 23,122,476 (-)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX16,663,307 - 16,754,925 (-)NCBIHuRef
CHM1_1X18,941,491 - 19,033,554 (-)NCBICHM1_1
Phka2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X159,284,900 - 159,384,772 (+)NCBIGRCm39mm39
GRCm39 EnsemblX159,285,162 - 159,381,874 (+)Ensembl
GRCm38X160,501,904 - 160,598,879 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX160,502,166 - 160,598,878 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X156,940,098 - 157,036,810 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X155,846,795 - 155,935,827 (+)NCBImm8
CeleraX143,744,774 - 143,840,006 (+)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX73.95NCBI
Phka2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X34,170,959 - 34,293,498 (-)NCBI
Rnor_6.0X35,970,650 - 36,926,616 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X37,168,173 - 37,247,279 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X36,294,428 - 36,310,087 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X55,463,178 - 55,580,783 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX34,854,122 - 34,969,564 (-)NCBICelera
Cytogenetic MapXq14NCBI
Phka2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955586482,353 - 552,616 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955586482,353 - 549,512 (+)NCBIChiLan1.0ChiLan1.0
PHKA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X18,877,476 - 18,968,730 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX18,877,476 - 18,968,730 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X11,513,747 - 11,605,382 (-)NCBIMhudiblu_PPA_v0panPan3
PHKA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X14,911,511 - 14,989,923 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX14,896,206 - 14,989,283 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X14,871,758 - 14,956,853 (-)NCBI
UMICH_Zoey_3.1X14,931,447 - 15,016,481 (-)NCBI
UNSW_CanFamBas_1.0X14,929,376 - 15,014,410 (-)NCBI
UU_Cfam_GSD_1.0X14,995,209 - 15,074,630 (-)NCBI
Phka2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X7,985,196 - 8,058,863 (-)NCBI
SpeTri2.0NW_004936844478,773 - 548,565 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PHKA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX15,283,102 - 15,365,565 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X15,279,398 - 15,365,731 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X16,491,725 - 16,574,273 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PHKA2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X17,333,146 - 17,422,653 (-)NCBI
ChlSab1.1 EnsemblX17,333,657 - 17,422,457 (-)Ensembl
Phka2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248293,714,700 - 3,781,949 (-)NCBI

Position Markers
GDB:604608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,915,189 - 18,915,410UniSTSGRCh37
Build 36X18,825,110 - 18,825,331RGDNCBI36
CeleraX23,035,238 - 23,035,459RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX16,668,279 - 16,668,500UniSTS
DXS8002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,916,860 - 18,917,111UniSTSGRCh37
Build 36X18,826,781 - 18,827,032RGDNCBI36
CeleraX23,036,909 - 23,037,160RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX16,669,950 - 16,670,201UniSTS
Pdha1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,962,882 - 18,963,051UniSTSGRCh37
GRCh37X19,368,055 - 19,368,228UniSTSGRCh37
GRCh37X19,368,056 - 19,368,170UniSTSGRCh37
Build 36X19,277,976 - 19,278,149RGDNCBI36
CeleraX23,082,878 - 23,083,047UniSTS
CeleraX23,489,393 - 23,489,566RGD
CeleraX23,489,394 - 23,489,508UniSTS
HuRefX17,117,232 - 17,117,346UniSTS
HuRefX17,117,231 - 17,117,404UniSTS
HuRefX16,715,831 - 16,716,000UniSTS
DXS6698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,923,959 - 18,924,170UniSTSGRCh37
Build 36X18,833,880 - 18,834,091RGDNCBI36
CeleraX23,044,008 - 23,044,219RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX16,677,025 - 16,677,236UniSTS
GDB:526394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,911,620 - 18,911,721UniSTSGRCh37
Build 36X18,821,541 - 18,821,642RGDNCBI36
CeleraX23,031,669 - 23,031,770RGD
Cytogenetic MapXp22.13UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX16,664,511 - 16,664,612UniSTS
GDB:526395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,969,230 - 18,969,330UniSTSGRCh37
Build 36X18,879,151 - 18,879,251RGDNCBI36
CeleraX23,089,226 - 23,089,326RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX16,722,290 - 16,722,390UniSTS
SHGC-111268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,916,752 - 18,917,046UniSTSGRCh37
Build 36X18,826,673 - 18,826,967RGDNCBI36
CeleraX23,036,801 - 23,037,095RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX16,669,842 - 16,670,136UniSTS
TNG Radiation Hybrid MapX6487.0UniSTS
497J19_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,953,392 - 18,953,646UniSTSGRCh37
Build 36X18,863,313 - 18,863,567RGDNCBI36
CeleraX23,073,388 - 23,073,642RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX16,706,182 - 16,706,436UniSTS
RH78314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,910,951 - 18,911,071UniSTSGRCh37
Build 36X18,820,872 - 18,820,992RGDNCBI36
CeleraX23,031,000 - 23,031,120RGD
Cytogenetic MapXp22.13UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX16,663,842 - 16,663,962UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
NCBI RH MapX10.0UniSTS
RH70923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,911,168 - 18,911,341UniSTSGRCh37
Build 36X18,821,089 - 18,821,262RGDNCBI36
CeleraX23,031,217 - 23,031,390RGD
Cytogenetic MapXp22.13UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX16,664,059 - 16,664,232UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
STS-X80497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,911,413 - 18,911,610UniSTSGRCh37
Build 36X18,821,334 - 18,821,531RGDNCBI36
CeleraX23,031,462 - 23,031,659RGD
Cytogenetic MapXp22.13UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX16,664,304 - 16,664,501UniSTS
GeneMap99-GB4 RH MapX90.7UniSTS
NCBI RH MapX10.0UniSTS
PHKA2__5686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,910,916 - 18,911,727UniSTSGRCh37
Build 36X18,820,837 - 18,821,648RGDNCBI36
CeleraX23,030,965 - 23,031,776RGD
HuRefX16,663,807 - 16,664,618UniSTS
GDB:524045  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2-p22.1UniSTS
GDB:526390  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2-p22.1UniSTS
GDB:526391  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2-p22.1UniSTS
GDB:526392  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2-p22.1UniSTS
GDB:526393  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2-p22.1UniSTS
Pdha1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,962,882 - 18,963,051UniSTSGRCh37
GRCh37X19,368,055 - 19,368,228UniSTSGRCh37
GRCh37X19,368,056 - 19,368,170UniSTSGRCh37
Build 36X19,277,976 - 19,278,149RGDNCBI36
CeleraX23,082,878 - 23,083,047UniSTS
CeleraX23,489,393 - 23,489,566RGD
CeleraX23,489,394 - 23,489,508UniSTS
HuRefX17,117,232 - 17,117,346UniSTS
HuRefX17,117,231 - 17,117,404UniSTS
HuRefX16,715,831 - 16,716,000UniSTS
Pdha1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,962,882 - 18,963,051UniSTSGRCh37
GRCh37X19,368,055 - 19,368,228UniSTSGRCh37
GRCh37X19,368,056 - 19,368,170UniSTSGRCh37
Build 36X19,277,976 - 19,278,149RGDNCBI36
CeleraX23,082,878 - 23,083,047UniSTS
CeleraX23,489,393 - 23,489,566RGD
CeleraX23,489,394 - 23,489,508UniSTS
HuRefX17,117,232 - 17,117,346UniSTS
HuRefX17,117,231 - 17,117,404UniSTS
HuRefX16,715,831 - 16,716,000UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1788
Count of miRNA genes:863
Interacting mature miRNAs:1028
Transcripts:ENST00000379942, ENST00000464455, ENST00000469485, ENST00000469645, ENST00000473597, ENST00000473739, ENST00000481718, ENST00000486231
Prediction methods:Miranda, Pita, 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 1066 1483 1631 549 1497 435 2389 577 1389 208 1337 1351 125 775 1278 3
Low 1370 1502 95 73 451 30 1967 1615 2332 210 116 261 46 429 1510 3
Below cutoff 2 3 2 2 2 12 1 7 3 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_950461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH007740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD722555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB458123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W63591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X73875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X80497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000379942   ⟹   ENSP00000369274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,892,298 - 18,984,114 (-)Ensembl
RefSeq Acc Id: ENST00000464455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,924,164 - 18,926,480 (-)Ensembl
RefSeq Acc Id: ENST00000469485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,892,973 - 18,898,169 (-)Ensembl
RefSeq Acc Id: ENST00000469645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,895,146 - 18,906,802 (-)Ensembl
RefSeq Acc Id: ENST00000473597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,893,448 - 18,895,242 (-)Ensembl
RefSeq Acc Id: ENST00000473739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,894,082 - 18,901,603 (-)Ensembl
RefSeq Acc Id: ENST00000481718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,892,972 - 18,896,634 (-)Ensembl
RefSeq Acc Id: ENST00000486231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,900,679 - 18,905,815 (-)Ensembl
RefSeq Acc Id: NM_000292   ⟹   NP_000283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,892,298 - 18,984,114 (-)NCBI
GRCh37X18,910,416 - 19,002,480 (-)ENTREZGENE
GRCh37X18,910,416 - 19,002,480 (-)NCBI
Build 36X18,820,793 - 18,912,097 (-)NCBI Archive
HuRefX16,663,307 - 16,754,925 (-)ENTREZGENE
CHM1_1X18,941,491 - 19,033,554 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274548   ⟹   XP_005274605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,892,970 - 18,984,102 (-)NCBI
GRCh37X18,910,416 - 19,002,480 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274550   ⟹   XP_005274607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,892,298 - 18,984,102 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724496   ⟹   XP_006724559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,892,298 - 18,984,102 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724498   ⟹   XP_006724561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,892,298 - 18,983,955 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545537   ⟹   XP_011543839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,892,298 - 18,984,102 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545538   ⟹   XP_011543840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,892,298 - 18,941,569 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029580   ⟹   XP_016885069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,892,298 - 18,951,181 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755697
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,897,316 - 18,984,102 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755698
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,892,298 - 18,984,102 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958777
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,894,301 - 18,984,102 (-)NCBI
Sequence:
RefSeq Acc Id: XR_950461
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,897,260 - 18,984,102 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000283   ⟸   NM_000292
- UniProtKB: P46019 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274607   ⟸   XM_005274550
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005274605   ⟸   XM_005274548
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724559   ⟸   XM_006724496
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006724561   ⟸   XM_006724498
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011543839   ⟸   XM_011545537
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543840   ⟸   XM_011545538
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016885069   ⟸   XM_017029580
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000369274   ⟸   ENST00000379942

Promoters
RGD ID:6809124
Promoter ID:HG_KWN:66171
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000055960
Position:
Human AssemblyChrPosition (strand)Source
Build 36X18,912,026 - 18,913,177 (-)MPROMDB
RGD ID:13604874
Promoter ID:EPDNEW_H28621
Type:initiation region
Name:PHKA2_3
Description:phosphorylase kinase regulatory subunit alpha 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28622  EPDNEW_H28623  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,984,386 - 18,984,446EPDNEW
RGD ID:13604876
Promoter ID:EPDNEW_H28622
Type:initiation region
Name:PHKA2_2
Description:phosphorylase kinase regulatory subunit alpha 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28621  EPDNEW_H28623  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,984,584 - 18,984,644EPDNEW
RGD ID:13604880
Promoter ID:EPDNEW_H28623
Type:initiation region
Name:PHKA2_1
Description:phosphorylase kinase regulatory subunit alpha 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28621  EPDNEW_H28622  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,984,988 - 18,985,048EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000292.3(PHKA2):c.1604A>G (p.Asp535Gly) single nucleotide variant not provided [RCV000520585] ChrX:18924491 [GRCh38]
ChrX:18942609 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.1482G>C (p.Leu494Phe) single nucleotide variant not provided [RCV000520070] ChrX:18925755 [GRCh38]
ChrX:18943873 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.750_752del (p.Thr251del) deletion Glycogen storage disease IXa2 [RCV000011285] ChrX:18941641..18941643 [GRCh38]
ChrX:18959759..18959761 [GRCh37]
ChrX:Xp22.13
pathogenic
PHKA2, 6-BP INS, NT3331 insertion Glycogen storage disease IXa2 [RCV000011286] ChrX:Xp22.2-p22.1 pathogenic
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) single nucleotide variant Glycogen storage disease type IXa1 [RCV000810740]|not provided [RCV000728027] ChrX:18906555 [GRCh38]
ChrX:18924673 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_000292.3(PHKA2):c.1579C>G (p.Gln527Glu) single nucleotide variant not specified [RCV000602601] ChrX:18924516 [GRCh38]
ChrX:18942634 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.717+1G>T single nucleotide variant Glycogen storage disease type IXa1 [RCV000011275] ChrX:18943709 [GRCh38]
ChrX:18961827 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.421_423del (p.Phe141del) deletion Glycogen storage disease type IXa1 [RCV000011278] ChrX:18951135..18951137 [GRCh38]
ChrX:18969253..18969255 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.2137+5G>A single nucleotide variant Glycogen phosphorylase kinase deficiency [RCV000578927] ChrX:18918676 [GRCh38]
ChrX:18936794 [GRCh37]
ChrX:Xp22.13
not provided
NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV000011273] ChrX:18901487 [GRCh38]
ChrX:18919605 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV000011274] ChrX:18908865 [GRCh38]
ChrX:18926983 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV000011276] ChrX:18897299 [GRCh38]
ChrX:18915417 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) single nucleotide variant Glycogen storage disease type IXa1 [RCV000011277]|not provided [RCV001091309] ChrX:18893579 [GRCh38]
ChrX:18911697 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) single nucleotide variant Glycogen storage disease IXa2 [RCV000011279]|Glycogen storage disease type IXa1 [RCV000548701] ChrX:18894400 [GRCh38]
ChrX:18912518 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly) single nucleotide variant Glycogen storage disease type IXa1 [RCV000011280] ChrX:18940017 [GRCh38]
ChrX:18958135 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) single nucleotide variant Glycogen storage disease IXa2 [RCV000011281]|Glycogen storage disease type IXa1 [RCV000631189] ChrX:18945139 [GRCh38]
ChrX:18963257 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_000292.3(PHKA2):c.395A>C (p.His132Pro) single nucleotide variant Glycogen storage disease IXa2 [RCV000011282] ChrX:18951163 [GRCh38]
ChrX:18969281 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) single nucleotide variant Glycogen storage disease IXa2 [RCV000011283]|Glycogen storage disease type IXa1 [RCV001333356] ChrX:18951164 [GRCh38]
ChrX:18969282 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) single nucleotide variant Glycogen storage disease IXa2 [RCV000011284]|Glycogen storage disease type IXa1 [RCV000768040] ChrX:18945140 [GRCh38]
ChrX:18963258 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu) single nucleotide variant Glycogen storage disease IXa2 [RCV000011287] ChrX:18945131 [GRCh38]
ChrX:18963249 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.13-22.12(chrX:18660565-19743908)x1 copy number loss See cases [RCV000051384] ChrX:18660565..19743908 [GRCh38]
ChrX:18678685..19762026 [GRCh37]
ChrX:18588606..19671947 [NCBI36]
ChrX:Xp22.13-22.12
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
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_000292.3(PHKA2):c.883C>T (p.Arg295Cys) single nucleotide variant Glycogen storage disease type IXa1 [RCV000190506] ChrX:18940030 [GRCh38]
ChrX:18958148 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000963561]|not specified [RCV000180130] ChrX:18941651 [GRCh38]
ChrX:18959769 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) single nucleotide variant Glycogen storage disease type IXa1 [RCV000694745]|Inborn genetic diseases [RCV000190690] ChrX:18940029 [GRCh38]
ChrX:18958147 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) single nucleotide variant Glycogen storage disease type IXa1 [RCV000990491]|Inborn genetic diseases [RCV000190757] ChrX:18894358 [GRCh38]
ChrX:18912476 [GRCh37]
ChrX:Xp22.13
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile) single nucleotide variant Glycogen storage disease type IXa1 [RCV001295682] ChrX:18926528 [GRCh38]
ChrX:18944646 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.395A>G (p.His132Arg) single nucleotide variant Glycogen storage disease type IXa1 [RCV001303128] ChrX:18951163 [GRCh38]
ChrX:18969281 [GRCh37]
ChrX:Xp22.13
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 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
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 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-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 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
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 Xp22.13(chrX:18898488-19165598)x2 copy number gain See cases [RCV000139616] ChrX:18898488..19165598 [GRCh38]
ChrX:18916606..19183716 [GRCh37]
ChrX:18826527..19093637 [NCBI36]
ChrX:Xp22.13
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.2-22.13(chrX:15789793-18902428)x1 copy number loss See cases [RCV000141732] ChrX:15789793..18902428 [GRCh38]
ChrX:15807916..18920546 [GRCh37]
ChrX:15717837..18830467 [NCBI36]
ChrX:Xp22.2-22.13
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
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 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 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
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_000292.3(PHKA2):c.899G>A (p.Gly300Asp) single nucleotide variant not provided [RCV000180487] ChrX:18940014 [GRCh38]
ChrX:18958132 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000292.3(PHKA2):c.2951T>C (p.Ile984Thr) single nucleotide variant Abnormality of neuronal migration [RCV000201393] ChrX:18901561 [GRCh38]
ChrX:18919679 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000538337]|not specified [RCV000243860] ChrX:18907083 [GRCh38]
ChrX:18925201 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000292.3(PHKA2):c.2361-12A>C single nucleotide variant not provided [RCV000675942]|not specified [RCV000246499] ChrX:18908068 [GRCh38]
ChrX:18926186 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.718-3C>T single nucleotide variant Glycogen storage disease type IXa1 [RCV000527669]|not specified [RCV000249008] ChrX:18941678 [GRCh38]
ChrX:18959796 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) single nucleotide variant Glycogen storage disease type IXa1 [RCV001081468]|not provided [RCV000675943]|not specified [RCV000241709] ChrX:18918741 [GRCh38]
ChrX:18936859 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000958311]|not specified [RCV000244227] ChrX:18893488 [GRCh38]
ChrX:18911606 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) single nucleotide variant Glycogen storage disease type IXa1 [RCV001079245]|not provided [RCV000435963]|not specified [RCV000251550] ChrX:18920043 [GRCh38]
ChrX:18938161 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.1758T>C (p.Ile586=) single nucleotide variant not specified [RCV000246800] ChrX:18924091 [GRCh38]
ChrX:18942209 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2807-46G>A single nucleotide variant not specified [RCV000246996] ChrX:18905905 [GRCh38]
ChrX:18924023 [GRCh37]
ChrX:Xp22.13
likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000292.3(PHKA2):c.849T>A (p.Ile283=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000974777]|not specified [RCV000244759] ChrX:18941544 [GRCh38]
ChrX:18959662 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) single nucleotide variant Glycogen storage disease type IXa1 [RCV001079231]|not provided [RCV000675940]|not specified [RCV000252064] ChrX:18907981 [GRCh38]
ChrX:18926099 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
NM_000292.3(PHKA2):c.3027+48C>A single nucleotide variant not specified [RCV000252445] ChrX:18901437 [GRCh38]
ChrX:18919555 [GRCh37]
ChrX:Xp22.13
likely benign
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_000292.3(PHKA2):c.112G>C (p.Glu38Gln) single nucleotide variant Glycogen storage disease type IXa1 [RCV000528019]|not provided [RCV000675947]|not specified [RCV000242827] ChrX:18954379 [GRCh38]
ChrX:18972497 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_000292.3(PHKA2):c.2782_2783delinsATGGCACGGAGCC (p.Leu928fs) indel not provided [RCV000293747] ChrX:18906518..18906519 [GRCh38]
ChrX:18924636..18924637 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.2672del (p.Thr891fs) deletion not provided [RCV000335824] ChrX:18906740 [GRCh38]
ChrX:18924858 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) single nucleotide variant not provided [RCV000904673]|not specified [RCV000320935] ChrX:18926516 [GRCh38]
ChrX:18944634 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity
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_000292.3(PHKA2):c.85G>A (p.Val29Ile) single nucleotide variant not provided [RCV000490017] ChrX:18954406 [GRCh38]
ChrX:18972524 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.132G>A (p.Val44=) single nucleotide variant not specified [RCV000606699] ChrX:18954359 [GRCh38]
ChrX:18972477 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2503G>C (p.Glu835Gln) single nucleotide variant not provided [RCV000521670] ChrX:18907914 [GRCh38]
ChrX:18926032 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3244G>A (p.Val1082Met) single nucleotide variant not specified [RCV000591627] ChrX:18897201 [GRCh38]
ChrX:18915319 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2806+13C>A single nucleotide variant not specified [RCV000605570] ChrX:18906482 [GRCh38]
ChrX:18924600 [GRCh37]
ChrX:Xp22.13
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys) single nucleotide variant Glycogen storage disease type IXa1 [RCV000694657]|not provided [RCV000593883] ChrX:18894368 [GRCh38]
ChrX:18912486 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
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 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000292.3(PHKA2):c.1041+10T>C single nucleotide variant not specified [RCV000427641] ChrX:18938617 [GRCh38]
ChrX:18956735 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000612357]|not provided [RCV000659146]|not specified [RCV000438064] ChrX:18926514 [GRCh38]
ChrX:18944632 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_000292.3(PHKA2):c.1246-12C>T single nucleotide variant not specified [RCV000431619] ChrX:18929318 [GRCh38]
ChrX:18947436 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3345G>A (p.Pro1115=) single nucleotide variant not specified [RCV000438371] ChrX:18894396 [GRCh38]
ChrX:18912514 [GRCh37]
ChrX:Xp22.13
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000970563]|not specified [RCV000438612] ChrX:18897258 [GRCh38]
ChrX:18915376 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_000292.3(PHKA2):c.3282+13G>A single nucleotide variant not provided [RCV000675939]|not specified [RCV000428399] ChrX:18897150 [GRCh38]
ChrX:18915268 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_000292.3(PHKA2):c.2518-5C>T single nucleotide variant not specified [RCV000435456] ChrX:18907102 [GRCh38]
ChrX:18925220 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000924481]|not specified [RCV000425320] ChrX:18897202 [GRCh38]
ChrX:18915320 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_000292.3(PHKA2):c.1635C>G (p.Ile545Met) single nucleotide variant not provided [RCV000902753]|not specified [RCV000432367] ChrX:18924460 [GRCh38]
ChrX:18942578 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_000292.3(PHKA2):c.963C>T (p.Phe321=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000974805]|not specified [RCV000436607] ChrX:18938705 [GRCh38]
ChrX:18956823 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.78+10G>A single nucleotide variant not specified [RCV000426418] ChrX:18983845 [GRCh38]
ChrX:19001963 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2670C>T (p.Leu890=) single nucleotide variant not specified [RCV000444030] ChrX:18906742 [GRCh38]
ChrX:18924860 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2568G>T (p.Pro856=) single nucleotide variant not specified [RCV000430327] ChrX:18907047 [GRCh38]
ChrX:18925165 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.-24C>T single nucleotide variant not specified [RCV000420494] ChrX:18983956 [GRCh38]
ChrX:19002074 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.1964-7A>G single nucleotide variant Glycogen storage disease type IXa1 [RCV000972284]|not specified [RCV000437533] ChrX:18918861 [GRCh38]
ChrX:18936979 [GRCh37]
ChrX:Xp22.13
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000292.3(PHKA2):c.3599_3601del (p.Phe1200del) deletion not provided [RCV000482027] ChrX:18893592..18893594 [GRCh38]
ChrX:18911710..18911712 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.3332G>A (p.Arg1111Gln) single nucleotide variant not provided [RCV000485262] ChrX:18895142 [GRCh38]
ChrX:18913260 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000292.3(PHKA2):c.2909-3C>T single nucleotide variant not specified [RCV000601687] ChrX:18901606 [GRCh38]
ChrX:18919724 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser) single nucleotide variant Glycogen storage disease type IXa1 [RCV001086990]|not provided [RCV000514227] ChrX:18908052 [GRCh38]
ChrX:18926170 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr) single nucleotide variant Glycogen storage disease type IXa1 [RCV000625923] ChrX:18899220 [GRCh38]
ChrX:18917338 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) deletion Glycogen storage disease type IXa1 [RCV001042605]|not provided [RCV000597489] ChrX:18897233..18897235 [GRCh38]
ChrX:18915351..18915353 [GRCh37]
ChrX:Xp22.13
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000292.3(PHKA2):c.3336+2T>A single nucleotide variant Glycogen storage disease type IXa1 [RCV000631190] ChrX:18895136 [GRCh38]
ChrX:18913254 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) single nucleotide variant Glycogen storage disease type IXa1 [RCV000631191] ChrX:18925744 [GRCh38]
ChrX:18943862 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.1793+18T>A single nucleotide variant not specified [RCV000607736] ChrX:18924038 [GRCh38]
ChrX:18942156 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1794-8_1812del deletion Glycogen storage disease type IXa1 [RCV000631192] ChrX:18920183..18920209 [GRCh38]
ChrX:18938301..18938327 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.1715-7T>C single nucleotide variant not specified [RCV000612252] ChrX:18924141 [GRCh38]
ChrX:18942259 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.455-10T>C single nucleotide variant not provided [RCV000939611]|not specified [RCV000612278] ChrX:18948836 [GRCh38]
ChrX:18966954 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1767A>G (p.Leu589=) single nucleotide variant not specified [RCV000615559] ChrX:18924082 [GRCh38]
ChrX:18942200 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) single nucleotide variant Glycogen storage disease type IXa1 [RCV000625643] ChrX:18951143 [GRCh38]
ChrX:18969261 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.1042-17A>G single nucleotide variant not specified [RCV000612916] ChrX:18936167 [GRCh38]
ChrX:18954285 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3615G>A (p.Pro1205=) single nucleotide variant not specified [RCV000607460] ChrX:18893578 [GRCh38]
ChrX:18911696 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3132G>A (p.Ser1044=) single nucleotide variant not specified [RCV000616317] ChrX:18897313 [GRCh38]
ChrX:18915431 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.339C>T (p.His113=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000911109]|not specified [RCV000613353] ChrX:18951219 [GRCh38]
ChrX:18969337 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2517+3C>T single nucleotide variant not specified [RCV000616713] ChrX:18907897 [GRCh38]
ChrX:18926015 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1363T>C (p.Leu455=) single nucleotide variant not specified [RCV000608073] ChrX:18926549 [GRCh38]
ChrX:18944667 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr) single nucleotide variant not specified [RCV000616904] ChrX:18894232 [GRCh38]
ChrX:18912350 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1459+17del deletion not specified [RCV000611060] ChrX:18926436 [GRCh38]
ChrX:18944554 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2313G>A (p.Ser771=) single nucleotide variant not specified [RCV000613966] ChrX:18908848 [GRCh38]
ChrX:18926966 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1715-3T>C single nucleotide variant not specified [RCV000611276] ChrX:18924137 [GRCh38]
ChrX:18942255 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala) single nucleotide variant Glycogen storage disease type IXa1 [RCV000966461]|not specified [RCV000611437] ChrX:18948809 [GRCh38]
ChrX:18966927 [GRCh37]
ChrX:Xp22.13
benign|likely benign
NM_000292.3(PHKA2):c.3336+17G>A single nucleotide variant not specified [RCV000608929] ChrX:18895121 [GRCh38]
ChrX:18913239 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2909-21GT[6] microsatellite not specified [RCV000614717] ChrX:18901614..18901615 [GRCh38]
ChrX:18919732..18919733 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2807-18C>T single nucleotide variant not specified [RCV000611972] ChrX:18905877 [GRCh38]
ChrX:18923995 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.79-18G>T single nucleotide variant not specified [RCV000604420] ChrX:18954430 [GRCh38]
ChrX:18972548 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2597+11A>C single nucleotide variant not specified [RCV000607443] ChrX:18907007 [GRCh38]
ChrX:18925125 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1714+1G>A single nucleotide variant Glycogen storage disease type IXa1 [RCV000631188] ChrX:18924380 [GRCh38]
ChrX:18942498 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.2172T>C (p.Ser724=) single nucleotide variant not specified [RCV000602136] ChrX:18910926 [GRCh38]
ChrX:18929044 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV000631193] ChrX:18936138 [GRCh38]
ChrX:18954256 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) single nucleotide variant Glycogen storage disease type IXa1 [RCV001083763]|not provided [RCV000675944]|not specified [RCV000605639] ChrX:18929306 [GRCh38]
ChrX:18947424 [GRCh37]
ChrX:Xp22.13
benign|uncertain significance
NM_000292.3(PHKA2):c.1794-16G>A single nucleotide variant not specified [RCV000607803] ChrX:18920217 [GRCh38]
ChrX:18938335 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) single nucleotide variant Glycogen storage disease type IXa1 [RCV000578399] ChrX:18954363 [GRCh38]
ChrX:18972481 [GRCh37]
ChrX:Xp22.13
likely pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_000292.3(PHKA2):c.2485C>G (p.Leu829Val) single nucleotide variant not provided [RCV000595641] ChrX:18907932 [GRCh38]
ChrX:18926050 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.537+11A>C single nucleotide variant not specified [RCV000600389] ChrX:18948733 [GRCh38]
ChrX:18966851 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2395del (p.His799fs) deletion not provided [RCV000512755] ChrX:18908022 [GRCh38]
ChrX:18926140 [GRCh37]
ChrX:Xp22.13
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000292.3(PHKA2):c.2760C>T (p.Ile920=) single nucleotide variant not specified [RCV000601563] ChrX:18906541 [GRCh38]
ChrX:18924659 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV000697872] ChrX:18910889 [GRCh38]
ChrX:18929007 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.1127C>T (p.Pro376Leu) single nucleotide variant not provided [RCV000675945] ChrX:18936065 [GRCh38]
ChrX:18954183 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs) duplication not provided [RCV000675941] ChrX:18907983..18907984 [GRCh38]
ChrX:18926101..18926102 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.1041+22C>T single nucleotide variant not provided [RCV000675946] ChrX:18938605 [GRCh38]
ChrX:18956723 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.13(chrX:18456527-19119902)x2 copy number gain not provided [RCV000684285] ChrX:18456527..19119902 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000292.3(PHKA2):c.2597+1G>A single nucleotide variant Glycogen storage disease type IXa1 [RCV000686297] ChrX:18907017 [GRCh38]
ChrX:18925135 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) deletion Glycogen storage disease type IXa1 [RCV000687343] ChrX:18983931..18983941 [GRCh38]
ChrX:19002049..19002059 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs) deletion Glycogen storage disease type IXa1 [RCV000688946] ChrX:18906519..18906529 [GRCh38]
ChrX:18924637..18924647 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn) single nucleotide variant Glycogen storage disease type IXa1 [RCV000686726] ChrX:18924519 [GRCh38]
ChrX:18942637 [GRCh37]
ChrX:Xp22.13
uncertain significance
NC_000023.11:g.(?_18920012)_(18920221_?)del deletion Glycogen storage disease type IXa1 [RCV000707906] ChrX:18920012..18920221 [GRCh38]
ChrX:18938130..18938339 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro) single nucleotide variant Glycogen storage disease type IXa1 [RCV000691293] ChrX:18907946 [GRCh38]
ChrX:18926064 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.2465del (p.Leu822fs) deletion Glycogen storage disease type IXa1 [RCV000701470] ChrX:18907952 [GRCh38]
ChrX:18926070 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.13(chrX:17921530-18947424)x2 copy number gain not provided [RCV000753400] ChrX:17921530..18947424 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000292.3(PHKA2):c.816T>C (p.Asp272=) single nucleotide variant not provided [RCV000941145] ChrX:18941577 [GRCh38]
ChrX:18959695 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1325-2A>G single nucleotide variant not provided [RCV000762609] ChrX:18926589 [GRCh38]
ChrX:18944707 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.1138-2A>G single nucleotide variant Glycogen storage disease type IXa1 [RCV000990494] ChrX:18931750 [GRCh38]
ChrX:18949868 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) deletion Glycogen storage disease type IXa1 [RCV000990496] ChrX:18951241..18951244 [GRCh38]
ChrX:18969359..18969362 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp) single nucleotide variant Glycogen storage disease type IXa1 [RCV001055677] ChrX:18924125 [GRCh38]
ChrX:18942243 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.2518-1G>A single nucleotide variant Glycogen storage disease type IXa1 [RCV001055694] ChrX:18907098 [GRCh38]
ChrX:18925216 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) indel Glycogen storage disease type IXa1 [RCV000856686] ChrX:18951139..18951153 [GRCh38]
ChrX:18969257..18969271 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) single nucleotide variant Glycogen storage disease type IXa1 [RCV000856687] ChrX:18931641 [GRCh38]
ChrX:18949759 [GRCh37]
ChrX:Xp22.13
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_000292.3(PHKA2):c.1333T>C (p.Leu445=) single nucleotide variant not provided [RCV000924710] ChrX:18926579 [GRCh38]
ChrX:18944697 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3069G>A (p.Val1023=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000959310] ChrX:18899215 [GRCh38]
ChrX:18917333 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12
pathogenic
NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter) duplication Glycogen storage disease type IXa1 [RCV000856683] ChrX:18908892..18908893 [GRCh38]
ChrX:18927010..18927011 [GRCh37]
ChrX:Xp22.13
pathogenic
NC_000023.11:g.18895137dup duplication Glycogen storage disease type IXa1 [RCV001040724] ChrX:18895136..18895137 [GRCh38]
ChrX:18913254..18913255 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV000995833] ChrX:18954256 [GRCh38]
ChrX:18972374 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.1042-1G>A single nucleotide variant Glycogen storage disease type IXa1 [RCV001043586] ChrX:18936151 [GRCh38]
ChrX:18954269 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg) single nucleotide variant Glycogen storage disease type IXa1 [RCV000856684] ChrX:18893565 [GRCh38]
ChrX:18911683 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) single nucleotide variant Glycogen storage disease type IXa1 [RCV000808960] ChrX:18954357 [GRCh38]
ChrX:18972475 [GRCh37]
ChrX:Xp22.13
conflicting interpretations of pathogenicity|uncertain significance
NM_000292.3(PHKA2):c.718-2A>G single nucleotide variant Glycogen storage disease type IXa1 [RCV000856688] ChrX:18941677 [GRCh38]
ChrX:18959795 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=) single nucleotide variant not provided [RCV000939591] ChrX:18918829 [GRCh38]
ChrX:18936947 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3522G>A (p.Leu1174=) single nucleotide variant not provided [RCV000923290] ChrX:18894219 [GRCh38]
ChrX:18912337 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV000804399] ChrX:18925691 [GRCh38]
ChrX:18943809 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.918+1G>A single nucleotide variant Glycogen storage disease type IXa1 [RCV000856685] ChrX:18939994 [GRCh38]
ChrX:18958112 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr) single nucleotide variant Glycogen storage disease type IXa1 [RCV000796625] ChrX:18938691 [GRCh38]
ChrX:18956809 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met) single nucleotide variant Glycogen storage disease type IXa1 [RCV000791105] ChrX:18924477 [GRCh38]
ChrX:18942595 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val) single nucleotide variant Glycogen storage disease type IXa1 [RCV000811096] ChrX:18941672 [GRCh38]
ChrX:18959790 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn) single nucleotide variant Glycogen storage disease type IXa1 [RCV000807388] ChrX:18951212 [GRCh38]
ChrX:18969330 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) single nucleotide variant Glycogen storage disease type IXa1 [RCV000798144] ChrX:18954358 [GRCh38]
ChrX:18972476 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV000811771] ChrX:18895143 [GRCh38]
ChrX:18913261 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.13(chrX:17557444-19260546)x2 copy number gain not provided [RCV000849199] ChrX:17557444..19260546 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) single nucleotide variant Glycogen storage disease type IXa1 [RCV000823090] ChrX:18893564 [GRCh38]
ChrX:18911682 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.1978C>T (p.Leu660Phe) single nucleotide variant not provided [RCV000842489] ChrX:18918840 [GRCh38]
ChrX:18936958 [GRCh37]
ChrX:Xp22.13
likely benign
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_000292.3(PHKA2):c.400C>T (p.Gln134Ter) single nucleotide variant not provided [RCV001091313] ChrX:18951158 [GRCh38]
ChrX:18969276 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe) single nucleotide variant Glycogen storage disease type IXa1 [RCV000785050] ChrX:18893603 [GRCh38]
ChrX:18911721 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln) single nucleotide variant Glycogen storage disease type IXa1 [RCV001262595]|not provided [RCV001091311] ChrX:18925747 [GRCh38]
ChrX:18943865 [GRCh37]
ChrX:Xp22.13
likely pathogenic|uncertain significance
NM_000292.3(PHKA2):c.2556C>T (p.Thr852=) single nucleotide variant not provided [RCV000827182] ChrX:18907059 [GRCh38]
ChrX:18925177 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.585G>A (p.Pro195=) single nucleotide variant not provided [RCV000827398] ChrX:18945111 [GRCh38]
ChrX:18963229 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val) single nucleotide variant Glycogen storage disease type IXa1 [RCV000821257] ChrX:18900699 [GRCh38]
ChrX:18918817 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.1042-12G>C single nucleotide variant not specified [RCV000825434] ChrX:18936162 [GRCh38]
ChrX:18954280 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3444G>A (p.Thr1148=) single nucleotide variant not provided [RCV000916392] ChrX:18894297 [GRCh38]
ChrX:18912415 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3189G>T (p.Arg1063=) single nucleotide variant not provided [RCV000918513] ChrX:18897256 [GRCh38]
ChrX:18915374 [GRCh37]
ChrX:Xp22.13
likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) single nucleotide variant Glycogen storage disease type IXa1 [RCV000809879] ChrX:18901541 [GRCh38]
ChrX:18919659 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.2156C>T (p.Pro719Leu) single nucleotide variant not provided [RCV001091310] ChrX:18910942 [GRCh38]
ChrX:18929060 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_000292.3(PHKA2):c.875G>A (p.Gly292Glu) single nucleotide variant not provided [RCV000999344] ChrX:18940038 [GRCh38]
ChrX:18958156 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV000990490] ChrX:18894344 [GRCh38]
ChrX:18912462 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) single nucleotide variant Glycogen storage disease type IXa1 [RCV000990493] ChrX:18906566 [GRCh38]
ChrX:18924684 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs) insertion Glycogen storage disease type IXa1 [RCV001209837] ChrX:18894316..18894317 [GRCh38]
ChrX:18912434..18912435 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.1964-3C>T single nucleotide variant Glycogen storage disease type IXa1 [RCV001241435] ChrX:18918857 [GRCh38]
ChrX:18936975 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.93del (p.Leu32fs) deletion Glycogen storage disease type IXa1 [RCV001202171] ChrX:18954398 [GRCh38]
ChrX:18972516 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) single nucleotide variant Glycogen storage disease type IXa1 [RCV000990492] ChrX:18906516 [GRCh38]
ChrX:18924634 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) single nucleotide variant Glycogen storage disease type IXa1 [RCV000990495] ChrX:18940029 [GRCh38]
ChrX:18958147 [GRCh37]
ChrX:Xp22.13
likely pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_000292.3(PHKA2):c.2956G>A (p.Glu986Lys) single nucleotide variant not provided [RCV000909990] ChrX:18901556 [GRCh38]
ChrX:18919674 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.1702C>T (p.Arg568Cys) single nucleotide variant not provided [RCV000936400] ChrX:18924393 [GRCh38]
ChrX:18942511 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) single nucleotide variant Glycogen storage disease type IXa1 [RCV000886916] ChrX:18924425 [GRCh38]
ChrX:18942543 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.3330C>T (p.Thr1110=) single nucleotide variant not provided [RCV000979283] ChrX:18895144 [GRCh38]
ChrX:18913262 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.3038G>A (p.Arg1013Gln) single nucleotide variant not provided [RCV000886406] ChrX:18900689 [GRCh38]
ChrX:18918807 [GRCh37]
ChrX:Xp22.13
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000292.3(PHKA2):c.869G>A (p.Arg290His) single nucleotide variant Glycogen storage disease type IXa1 [RCV001249715] ChrX:18940044 [GRCh38]
ChrX:18958162 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser) single nucleotide variant Glycogen storage disease type IXa1 [RCV001224050] ChrX:18908036 [GRCh38]
ChrX:18926154 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn) single nucleotide variant Glycogen storage disease type IXa1 [RCV001196288] ChrX:18905818 [GRCh38]
ChrX:18923936 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3283-1G>C single nucleotide variant Glycogen storage disease type IXa1 [RCV001210137] ChrX:18895192 [GRCh38]
ChrX:18913310 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.37G>A (p.Gly13Arg) single nucleotide variant not provided [RCV000933710] ChrX:18983896 [GRCh38]
ChrX:19002014 [GRCh37]
ChrX:Xp22.13
likely benign
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=) single nucleotide variant Glycogen storage disease type IXa1 [RCV000911676] ChrX:18920099 [GRCh38]
ChrX:18938217 [GRCh37]
ChrX:Xp22.13
benign
NM_000292.3(PHKA2):c.2004G>A (p.Leu668=) single nucleotide variant not provided [RCV000934349] ChrX:18918814 [GRCh38]
ChrX:18936932 [GRCh37]
ChrX:Xp22.13
likely benign
NC_000023.10:g.(?_18660114)_(19377781_?)del deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV001033913] ChrX:18660114..19377781 [GRCh37]
ChrX:Xp22.13-22.12
pathogenic
NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs) duplication Glycogen storage disease type IXa1 [RCV001064276] ChrX:18894363..18894364 [GRCh38]
ChrX:18912481..18912482 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV001218511] ChrX:18931681 [GRCh38]
ChrX:18949799 [GRCh37]
ChrX:Xp22.13
pathogenic
NC_000023.11:g.(?_18929208)_(18983952_?)del deletion Glycogen storage disease type IXa1 [RCV001033518] ChrX:18947326..19002070 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.285+2_285+5del deletion Glycogen storage disease type IXa1 [RCV001206358] ChrX:18952489..18952492 [GRCh38]
ChrX:18970607..18970610 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys) single nucleotide variant Glycogen storage disease type IXa1 [RCV001220227] ChrX:18936093 [GRCh38]
ChrX:18954211 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV001048783] ChrX:18894364 [GRCh38]
ChrX:18912482 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.3644_3646dup (p.Thr1216_Arg1217insIle) duplication Glycogen storage disease type IXa1 [RCV001043235] ChrX:18893546..18893547 [GRCh38]
ChrX:18911664..18911665 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe) single nucleotide variant Glycogen storage disease type IXa1 [RCV001235291] ChrX:18906615 [GRCh38]
ChrX:18924733 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr) single nucleotide variant Glycogen storage disease type IXa1 [RCV001213413] ChrX:18893485 [GRCh38]
ChrX:18911603 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.1144dup (p.Glu382fs) duplication not provided [RCV001008374] ChrX:18931741..18931742 [GRCh38]
ChrX:18949859..18949860 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.505_509del (p.Val169fs) deletion not provided [RCV001091312] ChrX:18948772..18948776 [GRCh38]
ChrX:18966890..18966894 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu) single nucleotide variant Glycogen storage disease type IXa1 [RCV001197079] ChrX:18941644 [GRCh38]
ChrX:18959762 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.2597+2dup duplication Glycogen storage disease type IXa1 [RCV001253641] ChrX:18907015..18907016 [GRCh38]
ChrX:18925133..18925134 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.13(chrX:18922539-19243013)x3 copy number gain not provided [RCV001259457] ChrX:18922539..19243013 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000292.3(PHKA2):c.2517+5G>A single nucleotide variant Glycogen storage disease type IXa1 [RCV001303082] ChrX:18907895 [GRCh38]
ChrX:18926013 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.13-22.12(chrX:18582617-19417295)x3 copy number gain not provided [RCV001259459] ChrX:18582617..19417295 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter) single nucleotide variant Glycogen storage disease type IXa1 [RCV001329781] ChrX:18894212 [GRCh38]
ChrX:18912330 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys) single nucleotide variant Glycogen storage disease type IXa1 [RCV001327428] ChrX:18907914 [GRCh38]
ChrX:18926032 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) single nucleotide variant Glycogen storage disease type IXa1 [RCV001312531] ChrX:18983929 [GRCh38]
ChrX:19002047 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His) single nucleotide variant Glycogen storage disease type IXa1 [RCV001348423] ChrX:18920068 [GRCh38]
ChrX:18938186 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser) single nucleotide variant Glycogen storage disease type IXa1 [RCV001303908] ChrX:18907974 [GRCh38]
ChrX:18926092 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_17393881)_(20284750_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001345684] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro) single nucleotide variant Glycogen storage disease type IXa1 [RCV001327258] ChrX:18940020 [GRCh38]
ChrX:18958138 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp) single nucleotide variant Glycogen storage disease type IXa1 [RCV001296044] ChrX:18945141 [GRCh38]
ChrX:18963259 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg) single nucleotide variant Glycogen storage disease type IXa1 [RCV001302143] ChrX:18894385 [GRCh38]
ChrX:18912503 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys) single nucleotide variant Glycogen storage disease type IXa1 [RCV001303323] ChrX:18907947 [GRCh38]
ChrX:18926065 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser) single nucleotide variant Glycogen storage disease type IXa1 [RCV001342789] ChrX:18895185 [GRCh38]
ChrX:18913303 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys) single nucleotide variant Glycogen storage disease type IXa1 [RCV001294778] ChrX:18895148 [GRCh38]
ChrX:18913266 [GRCh37]
ChrX:Xp22.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8926 AgrOrtholog
COSMIC PHKA2 COSMIC
Ensembl Genes ENSG00000044446 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000369274 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000379942 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.50.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000044446 GTEx
HGNC ID HGNC:8926 ENTREZGENE
Human Proteome Map PHKA2 Human Proteome Map
InterPro 6-hairpin_glycosidase_sf UniProtKB/Swiss-Prot
  6hp_glycosidase-like_sf UniProtKB/Swiss-Prot
  GH15-like UniProtKB/Swiss-Prot
  PHK_A/B_su UniProtKB/Swiss-Prot
KEGG Report hsa:5256 UniProtKB/Swiss-Prot
NCBI Gene 5256 ENTREZGENE
OMIM 300798 OMIM
  306000 OMIM
PANTHER PTHR10749 UniProtKB/Swiss-Prot
Pfam Glyco_hydro_15 UniProtKB/Swiss-Prot
PharmGKB PA33267 PharmGKB
Superfamily-SCOP SSF48208 UniProtKB/Swiss-Prot
UniProt KPB2_HUMAN UniProtKB/Swiss-Prot
  O60912_HUMAN UniProtKB/TrEMBL
  P46019 ENTREZGENE
UniProt Secondary A8K1T1 UniProtKB/Swiss-Prot
  Q6LAJ5 UniProtKB/Swiss-Prot
  Q7Z6W0 UniProtKB/Swiss-Prot
  Q96CR3 UniProtKB/Swiss-Prot
  Q9UDA1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-19 PHKA2  phosphorylase kinase regulatory subunit alpha 2    phosphorylase kinase, alpha 2 (liver)  Symbol and/or name change 5135510 APPROVED