PKP1 (plakophilin 1) - Rat Genome Database

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Gene: PKP1 (plakophilin 1) Homo sapiens
Analyze
Symbol: PKP1
Name: plakophilin 1
RGD ID: 1316687
HGNC Page HGNC:9023
Description: Enables lamin binding activity. Involved in intermediate filament bundle assembly and negative regulation of mRNA catabolic process. Located in nucleoplasm and plasma membrane. Implicated in ectodermal dysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B6P; band 6 protein; EDSFS; MGC138829; plakophilin-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381201,283,506 - 201,332,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1201,283,452 - 201,332,993 (+)EnsemblGRCh38hg38GRCh38
GRCh371201,252,634 - 201,302,117 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361199,519,203 - 199,568,740 (+)NCBINCBI36Build 36hg18NCBI36
Celera1174,376,403 - 174,425,974 (+)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1172,418,808 - 172,468,387 (+)NCBIHuRef
CHM1_11202,674,744 - 202,724,331 (+)NCBICHM1_1
T2T-CHM13v2.01200,541,289 - 200,590,813 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
adherens junction  (IBA,IEA)
anchoring junction  (IEA)
cornified envelope  (IEA,ISO,TAS)
cytoplasm  (IBA,IEA)
desmosome  (IEA,NAS)
ficolin-1-rich granule membrane  (TAS)
intermediate filament  (TAS)
nucleoplasm  (IDA)
nucleus  (IBA,IEA,NAS)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. McGrath JA, etal., Nat Genet. 1997 Oct;17(2):240-4.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7527055   PMID:7890138   PMID:9272178   PMID:9369526   PMID:9606214   PMID:9721216   PMID:10374265   PMID:10852826   PMID:10880961   PMID:10951270   PMID:11500511   PMID:11790773  
PMID:11994137   PMID:12477932   PMID:12839569   PMID:12840072   PMID:14673151   PMID:15663951   PMID:15988759   PMID:16159729   PMID:16632867   PMID:17593084   PMID:17668353   PMID:18029348  
PMID:18519826   PMID:19016709   PMID:19136012   PMID:19165232   PMID:19615732   PMID:19913121   PMID:19945625   PMID:20020773   PMID:20156963   PMID:20348237   PMID:20379614   PMID:20562859  
PMID:20613778   PMID:20628086   PMID:20634891   PMID:21800051   PMID:21873635   PMID:21947748   PMID:22170739   PMID:23376485   PMID:23443559   PMID:23444369   PMID:23858473   PMID:24056861  
PMID:24457600   PMID:24711643   PMID:24981860   PMID:25225333   PMID:25324306   PMID:25416956   PMID:25609649   PMID:25631074   PMID:25963833   PMID:26138584   PMID:26186194   PMID:26275350  
PMID:27015268   PMID:27591049   PMID:28514442   PMID:28515276   PMID:28977666   PMID:29121065   PMID:29467282   PMID:29678907   PMID:29863498   PMID:30482882   PMID:30946843   PMID:30948266  
PMID:31180492   PMID:31980649   PMID:32296183   PMID:32495884   PMID:32687490   PMID:32989256   PMID:33385445   PMID:33658012   PMID:33961781   PMID:34230135   PMID:34383978   PMID:34431227  
PMID:34445801   PMID:34591612   PMID:34728620   PMID:35182388   PMID:35271311   PMID:35831895   PMID:35864588   PMID:35941108   PMID:35944360   PMID:36057605   PMID:36114006   PMID:36339263  
PMID:36372391   PMID:36380368   PMID:36380691   PMID:36526897   PMID:36543142   PMID:37114302   PMID:37827155   PMID:37966033   PMID:38113892  


Genomics

Comparative Map Data
PKP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381201,283,506 - 201,332,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1201,283,452 - 201,332,993 (+)EnsemblGRCh38hg38GRCh38
GRCh371201,252,634 - 201,302,117 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361199,519,203 - 199,568,740 (+)NCBINCBI36Build 36hg18NCBI36
Celera1174,376,403 - 174,425,974 (+)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1172,418,808 - 172,468,387 (+)NCBIHuRef
CHM1_11202,674,744 - 202,724,331 (+)NCBICHM1_1
T2T-CHM13v2.01200,541,289 - 200,590,813 (+)NCBIT2T-CHM13v2.0
Pkp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391135,799,132 - 135,846,945 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1135,799,133 - 135,846,945 (-)EnsemblGRCm39 Ensembl
GRCm381135,871,394 - 135,919,207 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1135,871,395 - 135,919,207 (-)EnsemblGRCm38mm10GRCm38
MGSCv371137,767,972 - 137,815,601 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361137,687,806 - 137,735,435 (-)NCBIMGSCv36mm8
Celera1138,506,279 - 138,553,622 (-)NCBICelera
Cytogenetic Map1E4NCBI
cM Map159.35NCBI
Pkp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81349,861,340 - 49,909,162 (-)NCBIGRCr8
mRatBN7.21347,309,607 - 47,357,432 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1347,309,614 - 47,357,465 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1349,917,668 - 49,965,528 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01351,205,725 - 51,253,592 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01348,468,998 - 48,517,003 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01352,705,174 - 52,753,089 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1352,705,174 - 52,752,997 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01357,753,232 - 57,800,892 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41348,910,028 - 48,958,983 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11348,924,070 - 48,973,030 (-)NCBI
Celera1347,626,371 - 47,674,244 (-)NCBICelera
Cytogenetic Map13q13NCBI
Pkp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540637,419,856 - 37,465,655 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540637,420,019 - 37,465,588 (+)NCBIChiLan1.0ChiLan1.0
PKP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2148,049,593 - 48,099,255 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1148,013,571 - 48,063,272 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01176,881,154 - 176,930,814 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11181,182,829 - 181,232,347 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1181,182,829 - 181,232,347 (+)Ensemblpanpan1.1panPan2
PKP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.171,921,143 - 1,966,910 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl71,921,143 - 1,967,703 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha71,602,267 - 1,648,044 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.071,559,536 - 1,605,354 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl71,559,536 - 1,605,354 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.171,547,384 - 1,593,191 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.071,655,145 - 1,700,910 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.071,679,800 - 1,725,628 (-)NCBIUU_Cfam_GSD_1.0
Pkp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934473,855,210 - 73,903,643 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365673,089,881 - 3,138,331 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365673,089,902 - 3,138,252 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PKP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1023,689,380 - 23,735,453 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11023,689,394 - 23,735,457 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21028,237,387 - 28,276,472 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PKP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12528,083,358 - 28,129,356 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2528,081,983 - 28,128,173 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605528,880,279 - 28,925,618 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pkp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248079,372,099 - 9,419,067 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248079,374,206 - 9,419,075 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PKP1
282 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001005337.3(PKP1):c.910C>T (p.Gln304Ter) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000008041] Chr1:201317635 [GRCh38]
Chr1:201286763 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_001005337.3(PKP1):c.1107_1134dup (p.Val379fs) duplication Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000008042] Chr1:201318667..201318668 [GRCh38]
Chr1:201287795..201287796 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_001005337.3(PKP1):c.1233-2A>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000008043] Chr1:201320265 [GRCh38]
Chr1:201289393 [GRCh37]
Chr1:1q32.1		 pathogenic
GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3 copy number gain See cases [RCV000051558] Chr1:201226425..202014204 [GRCh38]
Chr1:201195553..201983332 [GRCh37]
Chr1:199462176..200249955 [NCBI36]
Chr1:1q32.1		 uncertain significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu) single nucleotide variant not provided [RCV000087165] Chr1:201318762 [GRCh38]
Chr1:201287890 [GRCh37]
Chr1:1q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001005337.3(PKP1):c.263A>G (p.Tyr88Cys) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000362830]|not provided [RCV002059421] Chr1:201294002 [GRCh38]
Chr1:201263130 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1 copy number loss See cases [RCV000133625] Chr1:200144603..203112078 [GRCh38]
Chr1:200113731..203081206 [GRCh37]
Chr1:198380354..201347829 [NCBI36]
Chr1:1q32.1		 pathogenic
NM_001005337.3(PKP1):c.586A>G (p.Ile196Val) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000388950]|not provided [RCV001610803] Chr1:201313445 [GRCh38]
Chr1:201282573 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
NM_001005337.3(PKP1):c.*2752G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000263286] Chr1:201332793 [GRCh38]
Chr1:201301921 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.1008C>T (p.Ser336=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000396606]|not provided [RCV000890752] Chr1:201317733 [GRCh38]
Chr1:201286861 [GRCh37]
Chr1:1q32.1		 benign|likely benign|uncertain significance
NM_001005337.3(PKP1):c.*301A>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000259520] Chr1:201330342 [GRCh38]
Chr1:201299470 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*2623C>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000259594] Chr1:201332664 [GRCh38]
Chr1:201301792 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.15G>T (p.Pro5=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000302269] Chr1:201283717 [GRCh38]
Chr1:201252845 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.418G>A (p.Ala140Thr) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000293537]|PKP1-related condition [RCV003957540]|not provided [RCV000911947] Chr1:201313277 [GRCh38]
Chr1:201282405 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.*1812G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000283645] Chr1:201331853 [GRCh38]
Chr1:201300981 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.346C>T (p.Arg116Cys) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000273008] Chr1:201313205 [GRCh38]
Chr1:201282333 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1134C>T (p.Arg378=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000274417]|not provided [RCV000894631] Chr1:201318697 [GRCh38]
Chr1:201287825 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.1938C>A (p.Asn646Lys) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000284164] Chr1:201325044 [GRCh38]
Chr1:201294172 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1585C>T (p.Arg529Cys) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000262373] Chr1:201323094 [GRCh38]
Chr1:201292222 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1336T>C (p.Cys446Arg) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000277584]|PKP1-related condition [RCV003930221]|not provided [RCV000959527] Chr1:201320370 [GRCh38]
Chr1:201289498 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.605G>A (p.Arg202His) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000278105]|not provided [RCV000960006] Chr1:201313464 [GRCh38]
Chr1:201282592 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.136A>T (p.Met46Leu) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000266980] Chr1:201283838 [GRCh38]
Chr1:201252966 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.2093G>A (p.Gly698Asp) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000379711] Chr1:201325825 [GRCh38]
Chr1:201294953 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1116G>C (p.Leu372=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000366695] Chr1:201318679 [GRCh38]
Chr1:201287807 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1325C>T (p.Ala442Val) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000369788]|not provided [RCV000971465] Chr1:201320359 [GRCh38]
Chr1:201289487 [GRCh37]
Chr1:1q32.1		 benign|uncertain significance
NM_001005337.3(PKP1):c.1557C>T (p.Ser519=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000373346]|not provided [RCV000925345] Chr1:201323066 [GRCh38]
Chr1:201292194 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.1934G>A (p.Arg645Lys) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000376879] Chr1:201325040 [GRCh38]
Chr1:201294168 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1747C>T (p.Leu583=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000319878]|not provided [RCV002519471] Chr1:201324494 [GRCh38]
Chr1:201293622 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.*673G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000329158] Chr1:201330714 [GRCh38]
Chr1:201299842 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.995G>A (p.Arg332His) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000306163] Chr1:201317720 [GRCh38]
Chr1:201286848 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.733C>T (p.Leu245=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000335548]|not provided [RCV001683176] Chr1:201316584 [GRCh38]
Chr1:201285712 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1237C>A (p.Leu413Met) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000312725] Chr1:201320271 [GRCh38]
Chr1:201289399 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*222G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000313728] Chr1:201330263 [GRCh38]
Chr1:201299391 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.482G>A (p.Cys161Tyr) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000332114]|not provided [RCV001610802] Chr1:201313341 [GRCh38]
Chr1:201282469 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.241G>A (p.Gly81Arg) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000326818]|not provided [RCV000962933] Chr1:201293980 [GRCh38]
Chr1:201263108 [GRCh37]
Chr1:1q32.1		 benign|uncertain significance
NM_001005337.3(PKP1):c.347G>A (p.Arg116His) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000328092]|PKP1-related condition [RCV003920195]|not provided [RCV000974877] Chr1:201313206 [GRCh38]
Chr1:201282334 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.996C>T (p.Arg332=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000344742] Chr1:201317721 [GRCh38]
Chr1:201286849 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1504-15G>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000316263]|not provided [RCV002059422] Chr1:201322998 [GRCh38]
Chr1:201292126 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.899A>C (p.Asn300Thr) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000341126] Chr1:201317624 [GRCh38]
Chr1:201286752 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.2050C>T (p.Arg684Trp) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000341479]|not provided [RCV002059423] Chr1:201325782 [GRCh38]
Chr1:201294910 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.*731G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000278188] Chr1:201330772 [GRCh38]
Chr1:201299900 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*2858C>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000285616] Chr1:201332899 [GRCh38]
Chr1:201302027 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1673T>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000279902] Chr1:201331714 [GRCh38]
Chr1:201300842 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*2559A>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000274600] Chr1:201332600 [GRCh38]
Chr1:201301728 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1229C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000269597] Chr1:201331270 [GRCh38]
Chr1:201300398 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.918C>T (p.Ala306=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000404358]|not provided [RCV001536941]|not specified [RCV000242284] Chr1:201317643 [GRCh38]
Chr1:201286771 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.36C>T (p.Tyr12=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000361551]|not provided [RCV001594896]|not specified [RCV000250310] Chr1:201283738 [GRCh38]
Chr1:201252866 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*2737C>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000374037] Chr1:201332778 [GRCh38]
Chr1:201301906 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*924T>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000300386] Chr1:201330965 [GRCh38]
Chr1:201300093 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.-116C>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000300872] Chr1:201283587 [GRCh38]
Chr1:201252715 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.*2850C>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000377646] Chr1:201332891 [GRCh38]
Chr1:201302019 [GRCh37]
Chr1:1q32.1		 benign|uncertain significance
NM_001005337.3(PKP1):c.*2704A>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000317113] Chr1:201332745 [GRCh38]
Chr1:201301873 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*856C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000335641] Chr1:201330897 [GRCh38]
Chr1:201300025 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*327C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000355700] Chr1:201330368 [GRCh38]
Chr1:201299496 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.*1689C>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000337337] Chr1:201331730 [GRCh38]
Chr1:201300858 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*1032C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000357643] Chr1:201331073 [GRCh38]
Chr1:201300201 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*151G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000402528] Chr1:201330192 [GRCh38]
Chr1:201299320 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.*1716C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000403392] Chr1:201331757 [GRCh38]
Chr1:201300885 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1148C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000304953] Chr1:201331189 [GRCh38]
Chr1:201300317 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.*616A>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000382507] Chr1:201330657 [GRCh38]
Chr1:201299785 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*1942A>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000405274] Chr1:201331983 [GRCh38]
Chr1:201301111 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.-130A>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000405993]|not provided [RCV001689975] Chr1:201283573 [GRCh38]
Chr1:201252701 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*718T>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000406569] Chr1:201330759 [GRCh38]
Chr1:201299887 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.*1884G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000340963] Chr1:201331925 [GRCh38]
Chr1:201301053 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.*417G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000360448] Chr1:201330458 [GRCh38]
Chr1:201299586 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1197C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000362007] Chr1:201331238 [GRCh38]
Chr1:201300366 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*2362C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000306496] Chr1:201332403 [GRCh38]
Chr1:201301531 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.*2505C>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000363395] Chr1:201332546 [GRCh38]
Chr1:201301674 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.*673G>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000386076] Chr1:201330714 [GRCh38]
Chr1:201299842 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*1555C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000387502] Chr1:201331596 [GRCh38]
Chr1:201300724 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.*683A>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000293612] Chr1:201330724 [GRCh38]
Chr1:201299852 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*579G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000325588] Chr1:201330620 [GRCh38]
Chr1:201299748 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*2542G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000309803] Chr1:201332583 [GRCh38]
Chr1:201301711 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.*1305T>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000326924] Chr1:201331346 [GRCh38]
Chr1:201300474 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.*2543C>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000366759] Chr1:201332584 [GRCh38]
Chr1:201301712 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*864G>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000390816] Chr1:201330905 [GRCh38]
Chr1:201300033 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.*192G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000348303] Chr1:201330233 [GRCh38]
Chr1:201299361 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.*2569_*2571C[5]ACCCTGACCC[1] microsatellite Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000370663] Chr1:201332609..201332610 [GRCh38]
Chr1:201301737..201301738 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*222G>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000370769] Chr1:201330263 [GRCh38]
Chr1:201299391 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.-86C>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000394595] Chr1:201283617 [GRCh38]
Chr1:201252745 [GRCh37]
Chr1:1q32.1		 benign|uncertain significance
NM_001005337.3(PKP1):c.*1040G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000395268] Chr1:201331081 [GRCh38]
Chr1:201300209 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*709G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000350816] Chr1:201330750 [GRCh38]
Chr1:201299878 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.*1643C>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000372107] Chr1:201331684 [GRCh38]
Chr1:201300812 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*2527G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000396674] Chr1:201332568 [GRCh38]
Chr1:201301696 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.822C>G (p.Phe274Leu) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000281650] Chr1:201316673 [GRCh38]
Chr1:201285801 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*2568_*2569insA insertion Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000313371] Chr1:201332609..201332610 [GRCh38]
Chr1:201301737..201301738 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1498A>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000273335] Chr1:201331539 [GRCh38]
Chr1:201300667 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*329C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000263210] Chr1:201330370 [GRCh38]
Chr1:201299498 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1133G>A (p.Arg378His) single nucleotide variant not provided [RCV000399466] Chr1:201318696 [GRCh38]
Chr1:201287824 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*447A>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000268091] Chr1:201330488 [GRCh38]
Chr1:201299616 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*63G>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000344821] Chr1:201330104 [GRCh38]
Chr1:201299232 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1516T>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000330618] Chr1:201331557 [GRCh38]
Chr1:201300685 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1409C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000365519] Chr1:201331450 [GRCh38]
Chr1:201300578 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1604C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000333709] Chr1:201331645 [GRCh38]
Chr1:201300773 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1565C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000295102] Chr1:201331606 [GRCh38]
Chr1:201300734 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*2778C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000320828] Chr1:201332819 [GRCh38]
Chr1:201301947 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.378G>C (p.Trp126Cys) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000387306] Chr1:201313237 [GRCh38]
Chr1:201282365 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*349A>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000320724] Chr1:201330390 [GRCh38]
Chr1:201299518 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*320G>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000298586] Chr1:201330361 [GRCh38]
Chr1:201299489 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*177del deletion Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000309854] Chr1:201330209 [GRCh38]
Chr1:201299337 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1014G>A (p.Leu338=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000309685] Chr1:201317739 [GRCh38]
Chr1:201286867 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*56C>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000287619] Chr1:201330097 [GRCh38]
Chr1:201299225 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.-96G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000355656] Chr1:201283607 [GRCh38]
Chr1:201252735 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.819C>T (p.Cys273=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000373733] Chr1:201316670 [GRCh38]
Chr1:201285798 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*2859G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000343020] Chr1:201332900 [GRCh38]
Chr1:201302028 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*644G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000290495] Chr1:201330685 [GRCh38]
Chr1:201299813 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*224delinsGG indel Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000397253] Chr1:201330265 [GRCh38]
Chr1:201299393 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NM_001005337.3(PKP1):c.2022-11C>T single nucleotide variant not specified [RCV000440203] Chr1:201325743 [GRCh38]
Chr1:201294871 [GRCh37]
Chr1:1q32.1		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001005337.3(PKP1):c.1840C>T (p.Gln614Ter) single nucleotide variant not provided [RCV000493473] Chr1:201324946 [GRCh38]
Chr1:201294074 [GRCh37]
Chr1:1q32.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000585663] Chr1:201316692 [GRCh38]
Chr1:201285820 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_001005337.3(PKP1):c.415G>A (p.Gly139Ser) single nucleotide variant Inborn genetic diseases [RCV003248438] Chr1:201313274 [GRCh38]
Chr1:201282402 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3 copy number gain not provided [RCV000684686] Chr1:200873507..201947585 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
NM_001005337.3(PKP1):c.1232+84G>A single nucleotide variant not provided [RCV001540382] Chr1:201318879 [GRCh38]
Chr1:201288007 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.847-72C>G single nucleotide variant not provided [RCV001612836] Chr1:201317500 [GRCh38]
Chr1:201286628 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.306+157C>G single nucleotide variant not provided [RCV001725443] Chr1:201294202 [GRCh38]
Chr1:201263330 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1348-121C>T single nucleotide variant not provided [RCV001681294] Chr1:201321857 [GRCh38]
Chr1:201290985 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1504-31T>C single nucleotide variant not provided [RCV001612503] Chr1:201322982 [GRCh38]
Chr1:201292110 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1232+109C>T single nucleotide variant not provided [RCV001690718] Chr1:201318904 [GRCh38]
Chr1:201288032 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.294A>G (p.Ser98=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098425]|not provided [RCV000969146] Chr1:201294033 [GRCh38]
Chr1:201263161 [GRCh37]
Chr1:1q32.1		 benign|likely benign
NM_001005337.3(PKP1):c.1333C>T (p.Arg445Cys) single nucleotide variant not provided [RCV000885013] Chr1:201320367 [GRCh38]
Chr1:201289495 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1681-1G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV000778958] Chr1:201324427 [GRCh38]
Chr1:201293555 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1260C>T (p.Arg420=) single nucleotide variant not provided [RCV000894105] Chr1:201320294 [GRCh38]
Chr1:201289422 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1743C>T (p.Arg581=) single nucleotide variant not provided [RCV000933247] Chr1:201324490 [GRCh38]
Chr1:201293618 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1834+6G>A single nucleotide variant PKP1-related condition [RCV003958027]|not provided [RCV000895368] Chr1:201324587 [GRCh38]
Chr1:201293715 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.609G>A (p.Pro203=) single nucleotide variant not provided [RCV000958548] Chr1:201313468 [GRCh38]
Chr1:201282596 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.919G>T (p.Ala307Ser) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096779] Chr1:201317644 [GRCh38]
Chr1:201286772 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*786A>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096977] Chr1:201330827 [GRCh38]
Chr1:201299955 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.*1730G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001097074] Chr1:201331771 [GRCh38]
Chr1:201300899 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.945G>A (p.Val315=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096780] Chr1:201317670 [GRCh38]
Chr1:201286798 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1258C>T (p.Arg420Cys) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098533] Chr1:201320292 [GRCh38]
Chr1:201289420 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1326G>T (p.Ala442=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098534] Chr1:201320360 [GRCh38]
Chr1:201289488 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1992C>G (p.Leu664=) single nucleotide variant not provided [RCV000897261] Chr1:201325098 [GRCh38]
Chr1:201294226 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.453G>T (p.Lys151Asn) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100195]|Inborn genetic diseases [RCV002554961]|not provided [RCV002508290] Chr1:201313312 [GRCh38]
Chr1:201282440 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*221C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096867] Chr1:201330262 [GRCh38]
Chr1:201299390 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*741G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096976] Chr1:201330782 [GRCh38]
Chr1:201299910 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*894T>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096979] Chr1:201330935 [GRCh38]
Chr1:201300063 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.383G>A (p.Arg128Gln) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100193] Chr1:201313242 [GRCh38]
Chr1:201282370 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.417C>T (p.Gly139=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100194]|not provided [RCV002554960] Chr1:201313276 [GRCh38]
Chr1:201282404 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.1200T>C (p.Pro400=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098532] Chr1:201318763 [GRCh38]
Chr1:201287891 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1233-2A>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001003405] Chr1:201320265 [GRCh38]
Chr1:201289393 [GRCh37]
Chr1:1q32.1		 pathogenic
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_001005337.3(PKP1):c.1390C>T (p.Arg464Cys) single nucleotide variant Inborn genetic diseases [RCV003269946] Chr1:201322020 [GRCh38]
Chr1:201291148 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1132C>T (p.Arg378Cys) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098531]|not provided [RCV002554926] Chr1:201318695 [GRCh38]
Chr1:201287823 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1347+7G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098535] Chr1:201320388 [GRCh38]
Chr1:201289516 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*933A>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098714] Chr1:201330974 [GRCh38]
Chr1:201300102 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1401C>T (p.Ala467=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100297]|not provided [RCV002556026] Chr1:201322031 [GRCh38]
Chr1:201291159 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.1784C>G (p.Ala595Gly) single nucleotide variant Inborn genetic diseases [RCV003240376] Chr1:201324531 [GRCh38]
Chr1:201293659 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.2107-223C>A single nucleotide variant not provided [RCV001645878] Chr1:201328539 [GRCh38]
Chr1:201297667 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1347+36G>A single nucleotide variant not provided [RCV001620017] Chr1:201320417 [GRCh38]
Chr1:201289545 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1348-40C>T single nucleotide variant not provided [RCV001682232] Chr1:201321938 [GRCh38]
Chr1:201291066 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1233-440G>A single nucleotide variant not provided [RCV001670053] Chr1:201319827 [GRCh38]
Chr1:201288955 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1348-316T>A single nucleotide variant not provided [RCV001616294] Chr1:201321662 [GRCh38]
Chr1:201290790 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.543G>A (p.Gln181=) single nucleotide variant not provided [RCV000905712] Chr1:201313402 [GRCh38]
Chr1:201282530 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.544A>C (p.Asn182His) single nucleotide variant not provided [RCV000905713] Chr1:201313403 [GRCh38]
Chr1:201282531 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.*1203C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100528] Chr1:201331244 [GRCh38]
Chr1:201300372 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.750T>C (p.Ala250=) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102183] Chr1:201316601 [GRCh38]
Chr1:201285729 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.2(PKP1):c.-235G>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096691] Chr1:201283468 [GRCh38]
Chr1:201252596 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1742G>A (p.Arg581His) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100300]|not provided [RCV002554963] Chr1:201324489 [GRCh38]
Chr1:201293617 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.780G>A (p.Lys260=) single nucleotide variant not provided [RCV000955830] Chr1:201316631 [GRCh38]
Chr1:201285759 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.2022-260G>A single nucleotide variant not provided [RCV001677470] Chr1:201325494 [GRCh38]
Chr1:201294622 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1055-217T>C single nucleotide variant not provided [RCV001719376] Chr1:201318401 [GRCh38]
Chr1:201287529 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.2021+234C>T single nucleotide variant not provided [RCV001643538] Chr1:201325361 [GRCh38]
Chr1:201294489 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1233-220G>A single nucleotide variant not provided [RCV001719551] Chr1:201320047 [GRCh38]
Chr1:201289175 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1503+290G>A single nucleotide variant not provided [RCV001719618] Chr1:201322423 [GRCh38]
Chr1:201291551 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1348-138T>G single nucleotide variant not provided [RCV001613447] Chr1:201321840 [GRCh38]
Chr1:201290968 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1347+137T>C single nucleotide variant not provided [RCV001723156] Chr1:201320518 [GRCh38]
Chr1:201289646 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1233-727G>A single nucleotide variant not provided [RCV001675500] Chr1:201319540 [GRCh38]
Chr1:201288668 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.847-76del deletion not provided [RCV001654737] Chr1:201317487 [GRCh38]
Chr1:201286615 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.2021+163C>T single nucleotide variant not provided [RCV001596732] Chr1:201325290 [GRCh38]
Chr1:201294418 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.846+84A>G single nucleotide variant not provided [RCV001636529] Chr1:201316781 [GRCh38]
Chr1:201285909 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.847-22C>T single nucleotide variant not provided [RCV001654970] Chr1:201317550 [GRCh38]
Chr1:201286678 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1504-105T>C single nucleotide variant not provided [RCV001719430] Chr1:201322908 [GRCh38]
Chr1:201292036 [GRCh37]
Chr1:1q32.1		 benign
NC_000001.11:g.201283337C>A single nucleotide variant not provided [RCV001686651] Chr1:201283337 [GRCh38]
Chr1:201252465 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1504-49C>T single nucleotide variant not provided [RCV001673926] Chr1:201322964 [GRCh38]
Chr1:201292092 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.2022-290T>C single nucleotide variant not provided [RCV001687110] Chr1:201325464 [GRCh38]
Chr1:201294592 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.702-282G>A single nucleotide variant not provided [RCV001621432] Chr1:201316271 [GRCh38]
Chr1:201285399 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.202+87C>G single nucleotide variant not provided [RCV001599138] Chr1:201283991 [GRCh38]
Chr1:201253119 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.889del (p.Arg297fs) deletion Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001003404] Chr1:201317613 [GRCh38]
Chr1:201286741 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_001005337.3(PKP1):c.*1064G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098715] Chr1:201331105 [GRCh38]
Chr1:201300233 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1132T>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098716] Chr1:201331173 [GRCh38]
Chr1:201300301 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1615A>G (p.Lys539Glu) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100299] Chr1:201323124 [GRCh38]
Chr1:201292252 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.790A>C (p.Ile264Leu) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102184] Chr1:201316641 [GRCh38]
Chr1:201285769 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1859C>T (p.Thr620Ile) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102269] Chr1:201324965 [GRCh38]
Chr1:201294093 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1443G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100529] Chr1:201331484 [GRCh38]
Chr1:201300612 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*448T>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100413] Chr1:201330489 [GRCh38]
Chr1:201299617 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.2015G>A (p.Arg672Gln) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102270] Chr1:201325121 [GRCh38]
Chr1:201294249 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1347+194C>A single nucleotide variant not provided [RCV001669034] Chr1:201320575 [GRCh38]
Chr1:201289703 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.2106+141C>T single nucleotide variant not provided [RCV001669096] Chr1:201325979 [GRCh38]
Chr1:201295107 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1680+171C>T single nucleotide variant not provided [RCV001669246] Chr1:201323360 [GRCh38]
Chr1:201292488 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1680+156G>T single nucleotide variant not provided [RCV001678851] Chr1:201323345 [GRCh38]
Chr1:201292473 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1681-302C>A single nucleotide variant not provided [RCV001609226] Chr1:201324126 [GRCh38]
Chr1:201293254 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1347+182C>A single nucleotide variant not provided [RCV001681137] Chr1:201320563 [GRCh38]
Chr1:201289691 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1233-497A>C single nucleotide variant not provided [RCV001669572] Chr1:201319770 [GRCh38]
Chr1:201288898 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.203-144C>T single nucleotide variant not provided [RCV001679384] Chr1:201293798 [GRCh38]
Chr1:201262926 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.846+160A>G single nucleotide variant not provided [RCV001669737] Chr1:201316857 [GRCh38]
Chr1:201285985 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.*2281C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001097075] Chr1:201332322 [GRCh38]
Chr1:201301450 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.2021+1G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001003403] Chr1:201325128 [GRCh38]
Chr1:201294256 [GRCh37]
Chr1:1q32.1		 pathogenic
NM_001005337.3(PKP1):c.*2460C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098828] Chr1:201332501 [GRCh38]
Chr1:201301629 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*2501C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098829] Chr1:201332542 [GRCh38]
Chr1:201301670 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*2408A>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098827] Chr1:201332449 [GRCh38]
Chr1:201301577 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1358A>G (p.Asn453Ser) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100296] Chr1:201321988 [GRCh38]
Chr1:201291116 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*2591G>A single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100640] Chr1:201332632 [GRCh38]
Chr1:201301760 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*713T>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102375] Chr1:201330754 [GRCh38]
Chr1:201299882 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1438G>A (p.Ala480Thr) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100298] Chr1:201322068 [GRCh38]
Chr1:201291196 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*861A>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001096978] Chr1:201330902 [GRCh38]
Chr1:201300030 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.2051G>A (p.Arg684Gln) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102271]|not provided [RCV001355017] Chr1:201325783 [GRCh38]
Chr1:201294911 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*1558C>T single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001102473] Chr1:201331599 [GRCh38]
Chr1:201300727 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.*896T>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001098713] Chr1:201330937 [GRCh38]
Chr1:201300065 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.*2805C>G single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001100914] Chr1:201332846 [GRCh38]
Chr1:201301974 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1504-124G>A single nucleotide variant not provided [RCV001536789] Chr1:201322889 [GRCh38]
Chr1:201292017 [GRCh37]
Chr1:1q32.1		 benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_001005337.3(PKP1):c.242G>A (p.Gly81Glu) single nucleotide variant not provided [RCV001354859] Chr1:201293981 [GRCh38]
Chr1:201263109 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1233-80C>T single nucleotide variant not provided [RCV001786708] Chr1:201320187 [GRCh38]
Chr1:201289315 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.2021+23G>A single nucleotide variant not provided [RCV001684758] Chr1:201325150 [GRCh38]
Chr1:201294278 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1504-296T>C single nucleotide variant not provided [RCV001643514] Chr1:201322717 [GRCh38]
Chr1:201291845 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.203-315G>T single nucleotide variant not provided [RCV001669792] Chr1:201293627 [GRCh38]
Chr1:201262755 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.202+249A>G single nucleotide variant not provided [RCV001684783] Chr1:201284153 [GRCh38]
Chr1:201253281 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.307-127C>G single nucleotide variant not provided [RCV001687852] Chr1:201313039 [GRCh38]
Chr1:201282167 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1835-84G>A single nucleotide variant not provided [RCV001674934] Chr1:201324857 [GRCh38]
Chr1:201293985 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1503+22C>T single nucleotide variant not provided [RCV001685881] Chr1:201322155 [GRCh38]
Chr1:201291283 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1835-99C>T single nucleotide variant not provided [RCV001654495] Chr1:201324842 [GRCh38]
Chr1:201293970 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.2092G>T (p.Gly698Cys) single nucleotide variant not provided [RCV001773053] Chr1:201325824 [GRCh38]
Chr1:201294952 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NM_001005337.3(PKP1):c.203-1G>C single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV001823495] Chr1:201293941 [GRCh38]
Chr1:201263069 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_001005337.3(PKP1):c.1391G>A (p.Arg464His) single nucleotide variant not provided [RCV002014451] Chr1:201322021 [GRCh38]
Chr1:201291149 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1492G>A (p.Asp498Asn) single nucleotide variant not provided [RCV001931313] Chr1:201322122 [GRCh38]
Chr1:201291250 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.701+19G>A single nucleotide variant not provided [RCV002169693] Chr1:201313579 [GRCh38]
Chr1:201282707 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.2022-16C>T single nucleotide variant not provided [RCV002153638] Chr1:201325738 [GRCh38]
Chr1:201294866 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.780= (p.Lys260=) variation not provided [RCV002094517] Chr1:201316631 [GRCh38]
Chr1:201285759 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.2021+16C>T single nucleotide variant not provided [RCV002142613] Chr1:201325143 [GRCh38]
Chr1:201294271 [GRCh37]
Chr1:1q32.1		 benign
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_001005337.3(PKP1):c.1033G>A (p.Glu345Lys) single nucleotide variant Inborn genetic diseases [RCV002836506] Chr1:201317758 [GRCh38]
Chr1:201286886 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1843G>T (p.Val615Leu) single nucleotide variant Inborn genetic diseases [RCV002860176] Chr1:201324949 [GRCh38]
Chr1:201294077 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1421G>A (p.Arg474His) single nucleotide variant Inborn genetic diseases [RCV002748990] Chr1:201322051 [GRCh38]
Chr1:201291179 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_001005337.3(PKP1):c.2038G>A (p.Ala680Thr) single nucleotide variant not provided [RCV002615280] Chr1:201325770 [GRCh38]
Chr1:201294898 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1375C>T (p.His459Tyr) single nucleotide variant Inborn genetic diseases [RCV002858873] Chr1:201322005 [GRCh38]
Chr1:201291133 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.976C>T (p.Arg326Trp) single nucleotide variant Inborn genetic diseases [RCV002997213] Chr1:201317701 [GRCh38]
Chr1:201286829 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.475C>A (p.Leu159Ile) single nucleotide variant Epidermolysis bullosa simplex due to plakophilin deficiency [RCV003130836]|not provided [RCV003095397] Chr1:201313334 [GRCh38]
Chr1:201282462 [GRCh37]
Chr1:1q32.1		 likely benign|uncertain significance
NM_001005337.3(PKP1):c.981G>A (p.Arg327=) single nucleotide variant not provided [RCV002923092] Chr1:201317706 [GRCh38]
Chr1:201286834 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.779A>T (p.Lys260Met) single nucleotide variant Inborn genetic diseases [RCV002762714] Chr1:201316630 [GRCh38]
Chr1:201285758 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1321G>A (p.Val441Ile) single nucleotide variant not provided [RCV002706215] Chr1:201320355 [GRCh38]
Chr1:201289483 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.907G>A (p.Val303Ile) single nucleotide variant Inborn genetic diseases [RCV002950677] Chr1:201317632 [GRCh38]
Chr1:201286760 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.847G>A (p.Val283Ile) single nucleotide variant Inborn genetic diseases [RCV002692659] Chr1:201317572 [GRCh38]
Chr1:201286700 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1054+20G>A single nucleotide variant not provided [RCV002572934] Chr1:201317799 [GRCh38]
Chr1:201286927 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.883C>T (p.Leu295Phe) single nucleotide variant not provided [RCV003026244] Chr1:201317608 [GRCh38]
Chr1:201286736 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1504-19A>G single nucleotide variant not provided [RCV002790629] Chr1:201322994 [GRCh38]
Chr1:201292122 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.456G>A (p.Ala152=) single nucleotide variant PKP1-related condition [RCV003963503]|not provided [RCV002958949] Chr1:201313315 [GRCh38]
Chr1:201282443 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.591G>T (p.Lys197Asn) single nucleotide variant Inborn genetic diseases [RCV002874231] Chr1:201313450 [GRCh38]
Chr1:201282578 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.824A>T (p.Gln275Leu) single nucleotide variant Inborn genetic diseases [RCV002709893] Chr1:201316675 [GRCh38]
Chr1:201285803 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1334G>A (p.Arg445His) single nucleotide variant not provided [RCV002932536] Chr1:201320368 [GRCh38]
Chr1:201289496 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.883C>G (p.Leu295Val) single nucleotide variant Inborn genetic diseases [RCV002928581]|not provided [RCV002942391] Chr1:201317608 [GRCh38]
Chr1:201286736 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1160G>T (p.Cys387Phe) single nucleotide variant Inborn genetic diseases [RCV002955119] Chr1:201318723 [GRCh38]
Chr1:201287851 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1835-13G>A single nucleotide variant not provided [RCV002572267] Chr1:201324928 [GRCh38]
Chr1:201294056 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.1233-6C>T single nucleotide variant not provided [RCV002720850] Chr1:201320261 [GRCh38]
Chr1:201289389 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1024G>A (p.Gly342Arg) single nucleotide variant Inborn genetic diseases [RCV002835515] Chr1:201317749 [GRCh38]
Chr1:201286877 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1950G>A (p.Ser650=) single nucleotide variant not provided [RCV003088612] Chr1:201325056 [GRCh38]
Chr1:201294184 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1609A>G (p.Lys537Glu) single nucleotide variant not provided [RCV003011580] Chr1:201323118 [GRCh38]
Chr1:201292246 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.604C>T (p.Arg202Cys) single nucleotide variant not provided [RCV002962398] Chr1:201313463 [GRCh38]
Chr1:201282591 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.306+11del deletion not provided [RCV002672059] Chr1:201294056 [GRCh38]
Chr1:201263184 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.598C>T (p.Pro200Ser) single nucleotide variant Inborn genetic diseases [RCV002855485] Chr1:201313457 [GRCh38]
Chr1:201282585 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1507A>G (p.Asn503Asp) single nucleotide variant Inborn genetic diseases [RCV003274130]|not provided [RCV003009035] Chr1:201323016 [GRCh38]
Chr1:201292144 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.919G>A (p.Ala307Thr) single nucleotide variant Inborn genetic diseases [RCV002935878] Chr1:201317644 [GRCh38]
Chr1:201286772 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.202+10C>T single nucleotide variant not provided [RCV002584729] Chr1:201283914 [GRCh38]
Chr1:201253042 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.305C>T (p.Pro102Leu) single nucleotide variant Inborn genetic diseases [RCV002655651] Chr1:201294044 [GRCh38]
Chr1:201263172 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1800C>T (p.Asn600=) single nucleotide variant not provided [RCV002613098] Chr1:201324547 [GRCh38]
Chr1:201293675 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1856T>C (p.Val619Ala) single nucleotide variant Inborn genetic diseases [RCV003179494] Chr1:201324962 [GRCh38]
Chr1:201294090 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.889C>G (p.Arg297Gly) single nucleotide variant Inborn genetic diseases [RCV003199501] Chr1:201317614 [GRCh38]
Chr1:201286742 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1447G>A (p.Ala483Thr) single nucleotide variant Inborn genetic diseases [RCV003198558] Chr1:201322077 [GRCh38]
Chr1:201291205 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.2116G>C (p.Asp706His) single nucleotide variant Inborn genetic diseases [RCV003211703] Chr1:201328771 [GRCh38]
Chr1:201297899 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1420C>T (p.Arg474Cys) single nucleotide variant Inborn genetic diseases [RCV003206779] Chr1:201322050 [GRCh38]
Chr1:201291178 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1558G>A (p.Gly520Ser) single nucleotide variant Inborn genetic diseases [RCV003207142] Chr1:201323067 [GRCh38]
Chr1:201292195 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1414C>T (p.Arg472Cys) single nucleotide variant Inborn genetic diseases [RCV003309192] Chr1:201322044 [GRCh38]
Chr1:201291172 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.926G>A (p.Gly309Glu) single nucleotide variant Inborn genetic diseases [RCV003352150] Chr1:201317651 [GRCh38]
Chr1:201286779 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.151C>T (p.Arg51Trp) single nucleotide variant Inborn genetic diseases [RCV003374414] Chr1:201283853 [GRCh38]
Chr1:201252981 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.935G>A (p.Arg312His) single nucleotide variant Inborn genetic diseases [RCV003374943] Chr1:201317660 [GRCh38]
Chr1:201286788 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1189G>T (p.Val397Leu) single nucleotide variant Inborn genetic diseases [RCV003365165] Chr1:201318752 [GRCh38]
Chr1:201287880 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.1541C>T (p.Thr514Ile) single nucleotide variant Inborn genetic diseases [RCV003363724] Chr1:201323050 [GRCh38]
Chr1:201292178 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.906C>T (p.Asn302=) single nucleotide variant not provided [RCV003414649] Chr1:201317631 [GRCh38]
Chr1:201286759 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1032C>G (p.Ala344=) single nucleotide variant not provided [RCV003414650] Chr1:201317757 [GRCh38]
Chr1:201286885 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1173C>T (p.Ser391=) single nucleotide variant not provided [RCV003414651] Chr1:201318736 [GRCh38]
Chr1:201287864 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1248C>T (p.Ala416=) single nucleotide variant not provided [RCV003414652] Chr1:201320282 [GRCh38]
Chr1:201289410 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1491C>T (p.Ser497=) single nucleotide variant not provided [RCV003414653] Chr1:201322121 [GRCh38]
Chr1:201291249 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1406T>C (p.Val469Ala) single nucleotide variant not provided [RCV003849045] Chr1:201322036 [GRCh38]
Chr1:201291164 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001005337.3(PKP1):c.826G>T (p.Asp276Tyr) single nucleotide variant not provided [RCV003544766] Chr1:201316677 [GRCh38]
Chr1:201285805 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.2022-18C>T single nucleotide variant not provided [RCV003824658] Chr1:201325736 [GRCh38]
Chr1:201294864 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1245G>A (p.Ser415=) single nucleotide variant not provided [RCV003739449] Chr1:201320279 [GRCh38]
Chr1:201289407 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1347+13C>T single nucleotide variant not provided [RCV003825745] Chr1:201320394 [GRCh38]
Chr1:201289522 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.2022-8C>T single nucleotide variant not provided [RCV003690884] Chr1:201325746 [GRCh38]
Chr1:201294874 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1059G>T (p.Leu353=) single nucleotide variant not provided [RCV003856420] Chr1:201318622 [GRCh38]
Chr1:201287750 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.375C>T (p.Asn125=) single nucleotide variant not provided [RCV003659231] Chr1:201313234 [GRCh38]
Chr1:201282362 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.720C>T (p.Ile240=) single nucleotide variant not provided [RCV003558886] Chr1:201316571 [GRCh38]
Chr1:201285699 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.199C>A (p.Arg67=) single nucleotide variant not provided [RCV003843450] Chr1:201283901 [GRCh38]
Chr1:201253029 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1055-16G>T single nucleotide variant not provided [RCV003681233] Chr1:201318602 [GRCh38]
Chr1:201287730 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1233-16C>T single nucleotide variant not provided [RCV003823478] Chr1:201320251 [GRCh38]
Chr1:201289379 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1374G>A (p.Leu458=) single nucleotide variant not provided [RCV003728935] Chr1:201322004 [GRCh38]
Chr1:201291132 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.307-5G>T single nucleotide variant not provided [RCV003553788] Chr1:201313161 [GRCh38]
Chr1:201282289 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1401C>G (p.Ala467=) single nucleotide variant not provided [RCV003722280] Chr1:201322031 [GRCh38]
Chr1:201291159 [GRCh37]
Chr1:1q32.1		 likely benign
GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1 copy number loss not specified [RCV003986384] Chr1:197216705..203683110 [GRCh37]
Chr1:1q31.3-32.1		 likely pathogenic
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3 copy number gain not specified [RCV003986684] Chr1:199373229..204335027 [GRCh37]
Chr1:1q32.1		 likely pathogenic
NM_001005337.3(PKP1):c.1239G>A (p.Leu413=) single nucleotide variant not provided [RCV003732624] Chr1:201320273 [GRCh38]
Chr1:201289401 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1233-413C>A single nucleotide variant PKP1-related condition [RCV003917218] Chr1:201319854 [GRCh38]
Chr1:201288982 [GRCh37]
Chr1:1q32.1		 benign
NM_001005337.3(PKP1):c.202+7G>C single nucleotide variant PKP1-related condition [RCV003974586] Chr1:201283911 [GRCh38]
Chr1:201253039 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001005337.3(PKP1):c.1586G>A (p.Arg529His) single nucleotide variant PKP1-related condition [RCV003969353] Chr1:201323095 [GRCh38]
Chr1:201292223 [GRCh37]
Chr1:1q32.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3979
Count of miRNA genes:1041
Interacting mature miRNAs:1279
Transcripts:ENST00000263946, ENST00000352845, ENST00000367324, ENST00000475988, ENST00000477817
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D1S477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371201,254,239 - 201,254,470UniSTSGRCh37
Build 361199,520,862 - 199,521,093RGDNCBI36
Celera1174,378,062 - 174,378,289RGD
Cytogenetic Map1q32UniSTS
HuRef1172,420,467 - 172,420,694UniSTS
Marshfield Genetic Map1215.17RGD
Marshfield Genetic Map1215.17UniSTS
Genethon Genetic Map1219.2UniSTS
deCODE Assembly Map1198.1UniSTS
Whitehead-RH Map1823.3UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-34136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371201,301,972 - 201,302,121UniSTSGRCh37
Build 361199,568,595 - 199,568,744RGDNCBI36
Celera1174,425,825 - 174,425,974RGD
Cytogenetic Map1q32UniSTS
HuRef1172,468,238 - 172,468,387UniSTS
TNG Radiation Hybrid Map198371.0UniSTS
GeneMap99-GB4 RH Map1665.11UniSTS
GeneMap99-GB4 RH Map1665.38UniSTS
Whitehead-RH Map1824.1UniSTS
NCBI RH Map11662.0UniSTS
G34869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371201,301,957 - 201,302,056UniSTSGRCh37
Build 361199,568,580 - 199,568,679RGDNCBI36
Celera1174,425,810 - 174,425,909RGD
Cytogenetic Map1q32UniSTS
HuRef1172,468,223 - 172,468,322UniSTS
SHGC-1568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371201,254,267 - 201,254,419UniSTSGRCh37
Build 361199,520,890 - 199,521,042RGDNCBI36
Celera1174,378,090 - 174,378,238RGD
Cytogenetic Map1q32UniSTS
HuRef1172,420,495 - 172,420,643UniSTS
G59460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371201,279,811 - 201,279,945UniSTSGRCh37
Build 361199,546,434 - 199,546,568RGDNCBI36
Celera1174,403,621 - 174,403,755RGD
Cytogenetic Map1q32UniSTS
HuRef1172,446,027 - 172,446,161UniSTS
TNG Radiation Hybrid Map198396.0UniSTS
D1S310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371201,258,774 - 201,258,956UniSTSGRCh37
Build 361199,525,397 - 199,525,579RGDNCBI36
Celera1174,382,593 - 174,382,767RGD
Cytogenetic Map1q32UniSTS
HuRef1172,424,998 - 172,425,172UniSTS
SHGC-150584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371201,254,234 - 201,254,549UniSTSGRCh37
Build 361199,520,857 - 199,521,172RGDNCBI36
Celera1174,378,057 - 174,378,368RGD
Cytogenetic Map1q32UniSTS
HuRef1172,420,462 - 172,420,773UniSTS
TNG Radiation Hybrid Map198359.0UniSTS
D1S3142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371201,264,384 - 201,264,549UniSTSGRCh37
Build 361199,531,007 - 199,531,172RGDNCBI36
Celera1174,388,195 - 174,388,360RGD
Cytogenetic Map1q32UniSTS
HuRef1172,430,600 - 172,430,765UniSTS
TNG Radiation Hybrid Map198363.0UniSTS
SHGC-76146  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q32UniSTS
HuRef1172,468,149 - 172,468,285UniSTS
TNG Radiation Hybrid Map198380.0UniSTS
GeneMap99-GB4 RH Map1667.19UniSTS
NCBI RH Map11674.5UniSTS


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 745 3 2 7 5 450
Medium 45 4 18 81 2 3 936 36 15 29 392 261 89 1 564 264 2
Low 1317 1173 701 113 301 28 2177 1548 1549 143 409 1014 85 638 1763 2 2
Below cutoff 1044 1796 842 281 1057 285 429 588 2109 176 601 214 2 311 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC119427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS673442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS673444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS690825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS690827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB665578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB665580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM706790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM706792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z73678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263946   ⟹   ENSP00000263946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,283,452 - 201,332,993 (+)Ensembl
RefSeq Acc Id: ENST00000352845   ⟹   ENSP00000295597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,283,703 - 201,328,836 (+)Ensembl
RefSeq Acc Id: ENST00000367324   ⟹   ENSP00000356293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,283,506 - 201,332,989 (+)Ensembl
RefSeq Acc Id: ENST00000475988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,316,192 - 201,320,172 (+)Ensembl
RefSeq Acc Id: ENST00000477817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1201,328,335 - 201,330,170 (+)Ensembl
RefSeq Acc Id: NM_000299   ⟹   NP_000290
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381201,283,506 - 201,332,989 (+)NCBI
GRCh371201,252,580 - 201,302,121 (+)ENTREZGENE
Build 361199,519,203 - 199,568,740 (+)NCBI Archive
HuRef1172,418,808 - 172,468,387 (+)ENTREZGENE
CHM1_11202,674,744 - 202,724,331 (+)NCBI
T2T-CHM13v2.01200,541,289 - 200,590,813 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001005337   ⟹   NP_001005337
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381201,283,506 - 201,332,989 (+)NCBI
GRCh371201,252,580 - 201,302,121 (+)ENTREZGENE
Build 361199,519,203 - 199,568,740 (+)NCBI Archive
HuRef1172,418,808 - 172,468,387 (+)ENTREZGENE
CHM1_11202,674,744 - 202,724,331 (+)NCBI
T2T-CHM13v2.01200,541,289 - 200,590,813 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000290   ⟸   NM_000299
- Peptide Label: isoform 1b
- UniProtKB: Q14CA0 (UniProtKB/Swiss-Prot),   O00645 (UniProtKB/Swiss-Prot),   Q15152 (UniProtKB/Swiss-Prot),   Q13835 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005337   ⟸   NM_001005337
- Peptide Label: isoform 1a
- Sequence:
RefSeq Acc Id: ENSP00000295597   ⟸   ENST00000352845
RefSeq Acc Id: ENSP00000356293   ⟸   ENST00000367324
RefSeq Acc Id: ENSP00000263946   ⟸   ENST00000263946

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13835-F1-model_v2 AlphaFold Q13835 1-747 view protein structure

Promoters
RGD ID:6858528
Promoter ID:EPDNEW_H2429
Type:initiation region
Name:PKP1_1
Description:plakophilin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381201,283,506 - 201,283,566EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9023 AgrOrtholog
COSMIC PKP1 COSMIC
Ensembl Genes ENSG00000081277 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263946 ENTREZGENE
  ENST00000263946.7 UniProtKB/Swiss-Prot
  ENST00000352845.3 UniProtKB/Swiss-Prot
  ENST00000367324 ENTREZGENE
  ENST00000367324.8 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000081277 GTEx
HGNC ID HGNC:9023 ENTREZGENE
Human Proteome Map PKP1 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Armadillo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plakophilin/d_Catenin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5317 UniProtKB/Swiss-Prot
NCBI Gene 5317 ENTREZGENE
OMIM 601975 OMIM
PANTHER PTHR10372 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10372:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Arm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33356 PharmGKB
PROSITE ARM_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ARM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt O00645 ENTREZGENE
  PKP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14BN3_HUMAN UniProtKB/TrEMBL
  Q14CA0 ENTREZGENE
  Q15152 ENTREZGENE
UniProt Secondary O00645 UniProtKB/Swiss-Prot
  Q14CA0 UniProtKB/Swiss-Prot
  Q15152 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-06-24 PKP1  plakophilin 1    plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)  Symbol and/or name change 5135510 APPROVED