PPL (periplakin) - Rat Genome Database

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Gene: PPL (periplakin) Homo sapiens
Analyze
Symbol: PPL
Name: periplakin
RGD ID: 1313581
HGNC Page HGNC:9273
Description: Enables cadherin binding activity. Involved in response to mechanical stimulus. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 190 kDa paraneoplastic pemphigus antigen; 195 kDa cornified envelope precursor protein; KIAA0568; MGC134872
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
GRCh38164,882,507 - 4,937,148 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,882,507 - 4,960,741 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,932,508 - 4,987,149 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,872,509 - 4,927,137 (-)NCBINCBI36Build 36hg18NCBI36
Build 34164,872,508 - 4,927,137NCBI
Celera165,141,279 - 5,196,514 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,898,630 - 4,953,162 (-)NCBIHuRef
CHM1_1164,933,400 - 4,987,985 (-)NCBICHM1_1
T2T-CHM13v2.0164,911,997 - 4,966,688 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
amphibole asbestos  (EXP)
amphotericin B  (EXP)
antimycin A  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
butan-1-ol  (EXP)
C60 fullerene  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cordycepin  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
dibenz[a,h]anthracene  (ISO)
dimethylarsinous acid  (EXP)
dioxygen  (EXP,ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP)
griseofulvin  (ISO)
L-methionine  (ISO)
lasalocid  (EXP)
lipopolysaccharide  (EXP)
mercury dibromide  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
ozone  (EXP,ISO)
p-toluidine  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:9412476   PMID:9521878   PMID:9570964   PMID:9628581   PMID:10051401   PMID:10379702   PMID:11062259   PMID:11854008   PMID:12176997   PMID:12244133   PMID:12366696  
PMID:12432088   PMID:12477932   PMID:12810704   PMID:12853457   PMID:14625392   PMID:15033990   PMID:15229321   PMID:15231748   PMID:15302935   PMID:15337775   PMID:15500642   PMID:15590649  
PMID:15654952   PMID:16400690   PMID:16565220   PMID:16713569   PMID:17500595   PMID:17662978   PMID:18624398   PMID:18820940   PMID:19056867   PMID:19199708   PMID:19211270   PMID:20360068  
PMID:20379614   PMID:20468064   PMID:21145461   PMID:21873635   PMID:21951621   PMID:22558309   PMID:22637743   PMID:22841549   PMID:23314748   PMID:23319000   PMID:24942859   PMID:25324306  
PMID:25416956   PMID:25468996   PMID:25520130   PMID:25637025   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26561776   PMID:27717390   PMID:28068625   PMID:28514442   PMID:28675297  
PMID:29507755   PMID:29509190   PMID:30021884   PMID:30516430   PMID:30787334   PMID:30979931   PMID:31091453   PMID:31180492   PMID:31324722   PMID:31409639   PMID:31586073   PMID:31594818  
PMID:31980649   PMID:32081916   PMID:32296183   PMID:32687490   PMID:32814053   PMID:33111431   PMID:33961781   PMID:34732716   PMID:34815391   PMID:35013218   PMID:35676246   PMID:35831314  
PMID:35844135   PMID:36123327   PMID:36470425   PMID:36526897   PMID:37689310  


Genomics

Comparative Map Data
PPL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,882,507 - 4,937,148 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,882,507 - 4,960,741 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,932,508 - 4,987,149 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,872,509 - 4,927,137 (-)NCBINCBI36Build 36hg18NCBI36
Build 34164,872,508 - 4,927,137NCBI
Celera165,141,279 - 5,196,514 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,898,630 - 4,953,162 (-)NCBIHuRef
CHM1_1164,933,400 - 4,987,985 (-)NCBICHM1_1
T2T-CHM13v2.0164,911,997 - 4,966,688 (-)NCBIT2T-CHM13v2.0
Ppl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,904,155 - 4,950,345 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,904,155 - 4,950,285 (-)EnsemblGRCm39 Ensembl
GRCm38165,086,291 - 5,132,481 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl165,086,291 - 5,132,421 (-)EnsemblGRCm38mm10GRCm38
MGSCv37165,086,384 - 5,132,574 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36165,002,052 - 5,047,742 (-)NCBIMGSCv36mm8
Celera165,717,626 - 5,763,961 (-)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.5NCBI
Ppl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81010,957,388 - 11,003,035 (+)NCBIGRCr8
mRatBN7.21010,450,919 - 10,496,575 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,450,919 - 10,496,575 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,157,972 - 15,204,645 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01014,646,792 - 14,693,465 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,315,883 - 10,362,718 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01010,644,572 - 10,690,223 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1010,644,572 - 10,690,223 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,411,587 - 9,457,238 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41010,566,823 - 10,612,474 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11010,580,532 - 10,611,535 (+)NCBI
Celera109,415,580 - 9,460,579 (+)NCBICelera
Cytogenetic Map10q12NCBI
Ppl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544212,581,879 - 12,626,516 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544212,581,918 - 12,627,407 (+)NCBIChiLan1.0ChiLan1.0
PPL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2185,410,780 - 5,465,575 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1169,200,937 - 9,255,565 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,806,725 - 3,861,354 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1164,971,133 - 5,025,572 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl164,972,007 - 5,002,004 (-)Ensemblpanpan1.1panPan2
PPL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1636,498,562 - 36,542,101 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl636,491,561 - 36,624,532 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha637,889,373 - 37,934,390 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0636,700,016 - 36,745,261 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl636,699,799 - 36,745,246 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1636,495,976 - 36,539,875 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,387,419 - 36,432,787 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0636,790,213 - 36,834,467 (+)NCBIUU_Cfam_GSD_1.0
Ppl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344106,980,835 - 107,020,652 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365304,825,679 - 4,866,093 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365304,826,271 - 4,866,093 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl337,460,303 - 37,511,875 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1337,460,487 - 37,511,879 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,466,379 - 38,517,781 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,554,837 - 4,610,427 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl54,555,682 - 4,610,278 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606826,047,268 - 26,102,872 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248242,721,336 - 2,765,811 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248242,720,444 - 2,765,937 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPL
188 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_002705.4(PPL):c.213C>T (p.Thr71=) single nucleotide variant Malignant melanoma [RCV000063053] Chr16:4903990 [GRCh38]
Chr16:4953991 [GRCh37]
Chr16:4893992 [NCBI36]
Chr16:16p13.3		 not provided
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:4926922-5824683)x3 copy number gain See cases [RCV000135677] Chr16:4926922..5824683 [GRCh38]
Chr16:4976923..5874684 [GRCh37]
Chr16:4916924..5814685 [NCBI36]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_002705.5(PPL):c.1673G>A (p.Arg558Gln) single nucleotide variant Inborn genetic diseases [RCV003245696] Chr16:4892191 [GRCh38]
Chr16:4942192 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1724A>G (p.Gln575Arg) single nucleotide variant Inborn genetic diseases [RCV003267547] Chr16:4892140 [GRCh38]
Chr16:4942141 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1 copy number loss See cases [RCV000446335] Chr16:4740929..4950995 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911)x3 copy number gain See cases [RCV000448804] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_002705.5(PPL):c.1379T>C (p.Leu460Pro) single nucleotide variant Inborn genetic diseases [RCV003295830] Chr16:4894482 [GRCh38]
Chr16:4944483 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1947C>G (p.Asp649Glu) single nucleotide variant Inborn genetic diseases [RCV003258576] Chr16:4891832 [GRCh38]
Chr16:4941833 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
NM_002705.5(PPL):c.4594G>C (p.Glu1532Gln) single nucleotide variant Inborn genetic diseases [RCV003302333] Chr16:4884061 [GRCh38]
Chr16:4934062 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_002705.5(PPL):c.115G>A (p.Asp39Asn) single nucleotide variant Inborn genetic diseases [RCV003262244] Chr16:4910897 [GRCh38]
Chr16:4960898 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_002705.5(PPL):c.3552G>A (p.Ala1184=) single nucleotide variant not provided [RCV000916817] Chr16:4885103 [GRCh38]
Chr16:4935104 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1032C>A (p.Asn344Lys) single nucleotide variant not provided [RCV000899158] Chr16:4895657 [GRCh38]
Chr16:4945658 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.2829T>C (p.Asp943=) single nucleotide variant not provided [RCV000901847] Chr16:4885826 [GRCh38]
Chr16:4935827 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1614T>C (p.Ala538=) single nucleotide variant not provided [RCV000881897] Chr16:4893249 [GRCh38]
Chr16:4943250 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.2288T>C (p.Met763Thr) single nucleotide variant not provided [RCV000948972] Chr16:4890209 [GRCh38]
Chr16:4940210 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.1488C>T (p.Pro496=) single nucleotide variant not provided [RCV000879674] Chr16:4893545 [GRCh38]
Chr16:4943546 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.2806G>C (p.Glu936Gln) single nucleotide variant not provided [RCV000973533] Chr16:4885849 [GRCh38]
Chr16:4935850 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.2457= (p.Arg819=) variation not provided [RCV000961215] Chr16:4888159 [GRCh38]
Chr16:4938160 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.1099C>G (p.Gln367Glu) single nucleotide variant not provided [RCV000965322] Chr16:4895404 [GRCh38]
Chr16:4945405 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.825C>T (p.Ser275=) single nucleotide variant not provided [RCV000965323] Chr16:4899064 [GRCh38]
Chr16:4949065 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.752G>A (p.Arg251His) single nucleotide variant not provided [RCV000965324] Chr16:4899239 [GRCh38]
Chr16:4949240 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.2961C>T (p.Asp987=) single nucleotide variant not provided [RCV000969667] Chr16:4885694 [GRCh38]
Chr16:4935695 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.2054C>G (p.Thr685Arg) single nucleotide variant not provided [RCV000969668] Chr16:4890836 [GRCh38]
Chr16:4940837 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.4383G>A (p.Leu1461=) single nucleotide variant not provided [RCV000887041] Chr16:4884272 [GRCh38]
Chr16:4934273 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.3378C>A (p.Thr1126=) single nucleotide variant not provided [RCV000967405] Chr16:4885277 [GRCh38]
Chr16:4935278 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.2060C>G (p.Ala687Gly) single nucleotide variant not provided [RCV000909175] Chr16:4890830 [GRCh38]
Chr16:4940831 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1281G>C (p.Lys427Asn) single nucleotide variant not provided [RCV000918341] Chr16:4894580 [GRCh38]
Chr16:4944581 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.63-5C>T single nucleotide variant not provided [RCV000887449] Chr16:4910954 [GRCh38]
Chr16:4960955 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.1695G>A (p.Arg565=) single nucleotide variant not provided [RCV000968726] Chr16:4892169 [GRCh38]
Chr16:4942170 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.2677_2679dup (p.Trp893dup) duplication not provided [RCV000883437] Chr16:4885975..4885976 [GRCh38]
Chr16:4935976..4935977 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.2905G>A (p.Glu969Lys) single nucleotide variant Inborn genetic diseases [RCV003267465] Chr16:4885750 [GRCh38]
Chr16:4935751 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.449A>G (p.Asn150Ser) single nucleotide variant Inborn genetic diseases [RCV003271372] Chr16:4901079 [GRCh38]
Chr16:4951080 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1009C>T (p.Arg337Cys) single nucleotide variant Inborn genetic diseases [RCV003290059] Chr16:4895680 [GRCh38]
Chr16:4945681 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3154G>T (p.Val1052Phe) single nucleotide variant Inborn genetic diseases [RCV003241720] Chr16:4885501 [GRCh38]
Chr16:4935502 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2884C>A (p.His962Asn) single nucleotide variant Inborn genetic diseases [RCV003240355] Chr16:4885771 [GRCh38]
Chr16:4935772 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3668G>A (p.Gly1223Asp) single nucleotide variant Inborn genetic diseases [RCV003274735] Chr16:4884987 [GRCh38]
Chr16:4934988 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2232G>T (p.Gln744His) single nucleotide variant not provided [RCV000889108] Chr16:4890265 [GRCh38]
Chr16:4940266 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.358A>C (p.Lys120Gln) single nucleotide variant not provided [RCV000907123] Chr16:4902486 [GRCh38]
Chr16:4952487 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.3414G>A (p.Glu1138=) single nucleotide variant not provided [RCV000930300] Chr16:4885241 [GRCh38]
Chr16:4935242 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.3595G>C (p.Glu1199Gln) single nucleotide variant not provided [RCV000959752] Chr16:4885060 [GRCh38]
Chr16:4935061 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.3399C>T (p.Leu1133=) single nucleotide variant not provided [RCV000908240] Chr16:4885256 [GRCh38]
Chr16:4935257 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.3398T>A (p.Leu1133His) single nucleotide variant not provided [RCV000908241] Chr16:4885257 [GRCh38]
Chr16:4935258 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1320G>C (p.Gly440=) single nucleotide variant not provided [RCV000908242] Chr16:4894541 [GRCh38]
Chr16:4944542 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.334G>A (p.Glu112Lys) single nucleotide variant not provided [RCV000908243] Chr16:4902510 [GRCh38]
Chr16:4952511 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.2313+5G>C single nucleotide variant not provided [RCV000887033] Chr16:4890179 [GRCh38]
Chr16:4940180 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.1891C>T (p.His631Tyr) single nucleotide variant not provided [RCV000887034] Chr16:4891888 [GRCh38]
Chr16:4941889 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.1700C>T (p.Thr567Met) single nucleotide variant not provided [RCV000887035] Chr16:4892164 [GRCh38]
Chr16:4942165 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1893C>T (p.His631=) single nucleotide variant not provided [RCV000951329] Chr16:4891886 [GRCh38]
Chr16:4941887 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.4190C>A (p.Thr1397Asn) single nucleotide variant not provided [RCV000955506] Chr16:4884465 [GRCh38]
Chr16:4934466 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.4104G>A (p.Ala1368=) single nucleotide variant not provided [RCV000957370] Chr16:4884551 [GRCh38]
Chr16:4934552 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.4593C>T (p.Arg1531=) single nucleotide variant not provided [RCV000891295] Chr16:4884062 [GRCh38]
Chr16:4934063 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.2838G>A (p.Leu946=) single nucleotide variant not provided [RCV000957371] Chr16:4885817 [GRCh38]
Chr16:4935818 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_002705.5(PPL):c.1102_1104del (p.Glu368del) deletion not provided [RCV001529287] Chr16:4895399..4895401 [GRCh38]
Chr16:4945400..4945402 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:4971767-5023403)x1 copy number loss not provided [RCV001834505] Chr16:4971767..5023403 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:4541805-5813911) copy number gain not specified [RCV002052503] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_002705.5(PPL):c.4313G>A (p.Arg1438His) single nucleotide variant Inborn genetic diseases [RCV003253994] Chr16:4884342 [GRCh38]
Chr16:4934343 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.963C>G (p.Asp321Glu) single nucleotide variant Inborn genetic diseases [RCV003262969] Chr16:4897684 [GRCh38]
Chr16:4947685 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_002705.5(PPL):c.3955C>G (p.Gln1319Glu) single nucleotide variant Inborn genetic diseases [RCV002968244] Chr16:4884700 [GRCh38]
Chr16:4934701 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4325C>G (p.Thr1442Ser) single nucleotide variant Inborn genetic diseases [RCV002841325] Chr16:4884330 [GRCh38]
Chr16:4934331 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2136C>A (p.Asn712Lys) single nucleotide variant Inborn genetic diseases [RCV002817952] Chr16:4890754 [GRCh38]
Chr16:4940755 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1295G>A (p.Ser432Asn) single nucleotide variant Inborn genetic diseases [RCV002686583] Chr16:4894566 [GRCh38]
Chr16:4944567 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1138G>T (p.Gly380Trp) single nucleotide variant Inborn genetic diseases [RCV002839800] Chr16:4895365 [GRCh38]
Chr16:4945366 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4570G>C (p.Glu1524Gln) single nucleotide variant Inborn genetic diseases [RCV002865475] Chr16:4884085 [GRCh38]
Chr16:4934086 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4730T>C (p.Leu1577Pro) single nucleotide variant Inborn genetic diseases [RCV002864510] Chr16:4883925 [GRCh38]
Chr16:4933926 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3243C>A (p.Asp1081Glu) single nucleotide variant Inborn genetic diseases [RCV002883231] Chr16:4885412 [GRCh38]
Chr16:4935413 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2330T>C (p.Ile777Thr) single nucleotide variant Inborn genetic diseases [RCV002688107] Chr16:4889045 [GRCh38]
Chr16:4939046 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1558C>T (p.Arg520Trp) single nucleotide variant Inborn genetic diseases [RCV002754127] Chr16:4893305 [GRCh38]
Chr16:4943306 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1783C>T (p.Arg595Trp) single nucleotide variant Inborn genetic diseases [RCV002732347] Chr16:4892081 [GRCh38]
Chr16:4942082 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2096G>A (p.Arg699His) single nucleotide variant Inborn genetic diseases [RCV002688984] Chr16:4890794 [GRCh38]
Chr16:4940795 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.857C>T (p.Pro286Leu) single nucleotide variant Inborn genetic diseases [RCV002734605] Chr16:4899032 [GRCh38]
Chr16:4949033 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3040C>T (p.Arg1014Trp) single nucleotide variant Inborn genetic diseases [RCV002688523] Chr16:4885615 [GRCh38]
Chr16:4935616 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.83C>T (p.Ser28Leu) single nucleotide variant Inborn genetic diseases [RCV002733304] Chr16:4910929 [GRCh38]
Chr16:4960930 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.823A>G (p.Ser275Gly) single nucleotide variant Inborn genetic diseases [RCV002946261] Chr16:4899066 [GRCh38]
Chr16:4949067 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1193C>T (p.Pro398Leu) single nucleotide variant Inborn genetic diseases [RCV002783675] Chr16:4895310 [GRCh38]
Chr16:4945311 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3769G>A (p.Asp1257Asn) single nucleotide variant Inborn genetic diseases [RCV002822369] Chr16:4884886 [GRCh38]
Chr16:4934887 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1210G>A (p.Val404Met) single nucleotide variant Inborn genetic diseases [RCV002849067] Chr16:4895293 [GRCh38]
Chr16:4945294 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.679T>C (p.Tyr227His) single nucleotide variant Inborn genetic diseases [RCV002705050] Chr16:4899312 [GRCh38]
Chr16:4949313 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3599G>A (p.Arg1200Gln) single nucleotide variant Inborn genetic diseases [RCV002926459] Chr16:4885056 [GRCh38]
Chr16:4935057 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2384A>T (p.Gln795Leu) single nucleotide variant Inborn genetic diseases [RCV002737064] Chr16:4888991 [GRCh38]
Chr16:4938992 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4903G>A (p.Glu1635Lys) single nucleotide variant Inborn genetic diseases [RCV002845804] Chr16:4883752 [GRCh38]
Chr16:4933753 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3100C>G (p.Leu1034Val) single nucleotide variant Inborn genetic diseases [RCV002925359] Chr16:4885555 [GRCh38]
Chr16:4935556 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2779G>A (p.Gly927Arg) single nucleotide variant Inborn genetic diseases [RCV002980818] Chr16:4885876 [GRCh38]
Chr16:4935877 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1932C>G (p.Ser644Arg) single nucleotide variant Inborn genetic diseases [RCV002739436] Chr16:4891847 [GRCh38]
Chr16:4941848 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3140G>A (p.Arg1047Gln) single nucleotide variant Inborn genetic diseases [RCV002691778] Chr16:4885515 [GRCh38]
Chr16:4935516 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4229G>A (p.Arg1410Gln) single nucleotide variant Inborn genetic diseases [RCV002739848] Chr16:4884426 [GRCh38]
Chr16:4934427 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1589G>A (p.Arg530Gln) single nucleotide variant Inborn genetic diseases [RCV002694054] Chr16:4893274 [GRCh38]
Chr16:4943275 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2864G>A (p.Arg955Gln) single nucleotide variant Inborn genetic diseases [RCV002783413] Chr16:4885791 [GRCh38]
Chr16:4935792 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.707G>A (p.Arg236His) single nucleotide variant Inborn genetic diseases [RCV002956460] Chr16:4899284 [GRCh38]
Chr16:4949285 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2465T>C (p.Val822Ala) single nucleotide variant Inborn genetic diseases [RCV002931321] Chr16:4888151 [GRCh38]
Chr16:4938152 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4927G>A (p.Val1643Met) single nucleotide variant Inborn genetic diseases [RCV003006849] Chr16:4883728 [GRCh38]
Chr16:4933729 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1061G>A (p.Arg354Gln) single nucleotide variant Inborn genetic diseases [RCV002713499] Chr16:4895628 [GRCh38]
Chr16:4945629 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1549G>A (p.Asp517Asn) single nucleotide variant Inborn genetic diseases [RCV002664610] Chr16:4893314 [GRCh38]
Chr16:4943315 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4762A>G (p.Met1588Val) single nucleotide variant Inborn genetic diseases [RCV002699382] Chr16:4883893 [GRCh38]
Chr16:4933894 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3119C>A (p.Ala1040Asp) single nucleotide variant Inborn genetic diseases [RCV002699669] Chr16:4885536 [GRCh38]
Chr16:4935537 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1784G>A (p.Arg595Gln) single nucleotide variant Inborn genetic diseases [RCV003003872] Chr16:4892080 [GRCh38]
Chr16:4942081 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.5239G>A (p.Glu1747Lys) single nucleotide variant Inborn genetic diseases [RCV002764070] Chr16:4883416 [GRCh38]
Chr16:4933417 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.928A>G (p.Ile310Val) single nucleotide variant Inborn genetic diseases [RCV003004921] Chr16:4897719 [GRCh38]
Chr16:4947720 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2209C>T (p.Arg737Cys) single nucleotide variant Inborn genetic diseases [RCV002930389] Chr16:4890288 [GRCh38]
Chr16:4940289 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2887A>G (p.Lys963Glu) single nucleotide variant Inborn genetic diseases [RCV002764271] Chr16:4885768 [GRCh38]
Chr16:4935769 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2561G>C (p.Arg854Thr) single nucleotide variant Inborn genetic diseases [RCV002956674] Chr16:4887181 [GRCh38]
Chr16:4937182 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.5178G>C (p.Gln1726His) single nucleotide variant Inborn genetic diseases [RCV002874205] Chr16:4883477 [GRCh38]
Chr16:4933478 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2017G>A (p.Glu673Lys) single nucleotide variant Inborn genetic diseases [RCV002786824] Chr16:4890873 [GRCh38]
Chr16:4940874 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1708G>A (p.Gly570Ser) single nucleotide variant Inborn genetic diseases [RCV002850849] Chr16:4892156 [GRCh38]
Chr16:4942157 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4093C>T (p.Arg1365Trp) single nucleotide variant Inborn genetic diseases [RCV002827679] Chr16:4884562 [GRCh38]
Chr16:4934563 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1591C>G (p.Pro531Ala) single nucleotide variant Inborn genetic diseases [RCV002983283] Chr16:4893272 [GRCh38]
Chr16:4943273 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4795A>G (p.Met1599Val) single nucleotide variant Inborn genetic diseases [RCV002744234] Chr16:4883860 [GRCh38]
Chr16:4933861 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.173G>A (p.Arg58Gln) single nucleotide variant Inborn genetic diseases [RCV003006804] Chr16:4904030 [GRCh38]
Chr16:4954031 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.745C>A (p.Pro249Thr) single nucleotide variant Inborn genetic diseases [RCV002875460] Chr16:4899246 [GRCh38]
Chr16:4949247 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4139G>A (p.Arg1380Gln) single nucleotide variant Inborn genetic diseases [RCV002805064] Chr16:4884516 [GRCh38]
Chr16:4934517 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2366C>G (p.Ala789Gly) single nucleotide variant Inborn genetic diseases [RCV002964139] Chr16:4889009 [GRCh38]
Chr16:4939010 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1513C>G (p.Arg505Gly) single nucleotide variant Inborn genetic diseases [RCV002673842] Chr16:4893350 [GRCh38]
Chr16:4943351 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3628C>T (p.Arg1210Trp) single nucleotide variant Inborn genetic diseases [RCV002674621] Chr16:4885027 [GRCh38]
Chr16:4935028 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2365G>T (p.Ala789Ser) single nucleotide variant Inborn genetic diseases [RCV002964138] Chr16:4889010 [GRCh38]
Chr16:4939011 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.338G>A (p.Arg113His) single nucleotide variant Inborn genetic diseases [RCV002768892] Chr16:4902506 [GRCh38]
Chr16:4952507 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3036G>C (p.Gln1012His) single nucleotide variant Inborn genetic diseases [RCV002807521] Chr16:4885619 [GRCh38]
Chr16:4935620 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4471G>C (p.Glu1491Gln) single nucleotide variant Inborn genetic diseases [RCV002703585] Chr16:4884184 [GRCh38]
Chr16:4934185 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1368C>A (p.Asp456Glu) single nucleotide variant Inborn genetic diseases [RCV002855432] Chr16:4894493 [GRCh38]
Chr16:4944494 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4970C>G (p.Ser1657Cys) single nucleotide variant Inborn genetic diseases [RCV002831834] Chr16:4883685 [GRCh38]
Chr16:4933686 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1265G>A (p.Ser422Asn) single nucleotide variant Inborn genetic diseases [RCV002769646] Chr16:4894596 [GRCh38]
Chr16:4944597 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1597C>A (p.Leu533Met) single nucleotide variant Inborn genetic diseases [RCV002670583] Chr16:4893266 [GRCh38]
Chr16:4943267 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4331C>T (p.Thr1444Met) single nucleotide variant Inborn genetic diseases [RCV002675105] Chr16:4884324 [GRCh38]
Chr16:4934325 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.5082C>A (p.Asp1694Glu) single nucleotide variant Inborn genetic diseases [RCV002648558] Chr16:4883573 [GRCh38]
Chr16:4933574 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.383C>A (p.Ala128Glu) single nucleotide variant Inborn genetic diseases [RCV002835645] Chr16:4902461 [GRCh38]
Chr16:4952462 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1444C>T (p.Arg482Cys) single nucleotide variant Inborn genetic diseases [RCV002713955] Chr16:4893589 [GRCh38]
Chr16:4943590 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.826G>A (p.Glu276Lys) single nucleotide variant Inborn genetic diseases [RCV002831514] Chr16:4899063 [GRCh38]
Chr16:4949064 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4001A>G (p.Glu1334Gly) single nucleotide variant Inborn genetic diseases [RCV002831330] Chr16:4884654 [GRCh38]
Chr16:4934655 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.535G>A (p.Gly179Arg) single nucleotide variant Inborn genetic diseases [RCV002897237] Chr16:4900993 [GRCh38]
Chr16:4950994 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3988G>C (p.Ala1330Pro) single nucleotide variant Inborn genetic diseases [RCV002939219] Chr16:4884667 [GRCh38]
Chr16:4934668 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4582C>T (p.Arg1528Cys) single nucleotide variant Inborn genetic diseases [RCV002679939] Chr16:4884073 [GRCh38]
Chr16:4934074 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3433C>T (p.Arg1145Cys) single nucleotide variant Inborn genetic diseases [RCV002657586] Chr16:4885222 [GRCh38]
Chr16:4935223 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4021G>A (p.Glu1341Lys) single nucleotide variant Inborn genetic diseases [RCV002680084] Chr16:4884634 [GRCh38]
Chr16:4934635 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2546T>C (p.Val849Ala) single nucleotide variant Inborn genetic diseases [RCV003299578] Chr16:4887196 [GRCh38]
Chr16:4937197 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.5111A>T (p.Asn1704Ile) single nucleotide variant Inborn genetic diseases [RCV003189968] Chr16:4883544 [GRCh38]
Chr16:4933545 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2654C>T (p.Pro885Leu) single nucleotide variant Inborn genetic diseases [RCV003190011] Chr16:4886001 [GRCh38]
Chr16:4936002 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3424G>A (p.Ala1142Thr) single nucleotide variant Inborn genetic diseases [RCV003190688] Chr16:4885231 [GRCh38]
Chr16:4935232 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.355G>A (p.Gly119Arg) single nucleotide variant Inborn genetic diseases [RCV003191861] Chr16:4902489 [GRCh38]
Chr16:4952490 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.651C>G (p.Asp217Glu) single nucleotide variant Inborn genetic diseases [RCV003206055] Chr16:4899340 [GRCh38]
Chr16:4949341 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.226T>G (p.Leu76Val) single nucleotide variant Inborn genetic diseases [RCV003210307] Chr16:4903977 [GRCh38]
Chr16:4953978 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4897A>G (p.Ile1633Val) single nucleotide variant Inborn genetic diseases [RCV003219265] Chr16:4883758 [GRCh38]
Chr16:4933759 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2065C>T (p.Arg689Cys) single nucleotide variant Inborn genetic diseases [RCV003179432] Chr16:4890825 [GRCh38]
Chr16:4940826 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.608C>T (p.Ala203Val) single nucleotide variant Inborn genetic diseases [RCV003198937] Chr16:4899383 [GRCh38]
Chr16:4949384 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.5039T>C (p.Ile1680Thr) single nucleotide variant Inborn genetic diseases [RCV003199025] Chr16:4883616 [GRCh38]
Chr16:4933617 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.514C>T (p.His172Tyr) single nucleotide variant Inborn genetic diseases [RCV003174927] Chr16:4901014 [GRCh38]
Chr16:4951015 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.203G>A (p.Arg68Gln) single nucleotide variant Inborn genetic diseases [RCV003199688] Chr16:4904000 [GRCh38]
Chr16:4954001 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2659T>C (p.Ser887Pro) single nucleotide variant Inborn genetic diseases [RCV003203446] Chr16:4885996 [GRCh38]
Chr16:4935997 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2842G>A (p.Glu948Lys) single nucleotide variant Inborn genetic diseases [RCV003180238] Chr16:4885813 [GRCh38]
Chr16:4935814 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4411C>T (p.His1471Tyr) single nucleotide variant Inborn genetic diseases [RCV003198445] Chr16:4884244 [GRCh38]
Chr16:4934245 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3392G>A (p.Ser1131Asn) single nucleotide variant Inborn genetic diseases [RCV003209622] Chr16:4885263 [GRCh38]
Chr16:4935264 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4034G>A (p.Arg1345Gln) single nucleotide variant Inborn genetic diseases [RCV003177836] Chr16:4884621 [GRCh38]
Chr16:4934622 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1490G>T (p.Gly497Val) single nucleotide variant Inborn genetic diseases [RCV003192306] Chr16:4893543 [GRCh38]
Chr16:4943544 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4388G>A (p.Arg1463Gln) single nucleotide variant Inborn genetic diseases [RCV003310341] Chr16:4884267 [GRCh38]
Chr16:4934268 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.355G>T (p.Gly119Trp) single nucleotide variant Inborn genetic diseases [RCV003309130] Chr16:4902489 [GRCh38]
Chr16:4952490 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4649A>G (p.His1550Arg) single nucleotide variant Inborn genetic diseases [RCV003342356] Chr16:4884006 [GRCh38]
Chr16:4934007 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1539G>C (p.Lys513Asn) single nucleotide variant Inborn genetic diseases [RCV003360049] Chr16:4893324 [GRCh38]
Chr16:4943325 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.430G>A (p.Glu144Lys) single nucleotide variant Inborn genetic diseases [RCV003364445] Chr16:4902414 [GRCh38]
Chr16:4952415 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4772C>T (p.Thr1591Met) single nucleotide variant Inborn genetic diseases [RCV003351157] Chr16:4883883 [GRCh38]
Chr16:4933884 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2846G>A (p.Ser949Asn) single nucleotide variant Inborn genetic diseases [RCV003383894] Chr16:4885809 [GRCh38]
Chr16:4935810 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.202C>T (p.Arg68Trp) single nucleotide variant Inborn genetic diseases [RCV003364357] Chr16:4904001 [GRCh38]
Chr16:4954002 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4940G>C (p.Arg1647Pro) single nucleotide variant Inborn genetic diseases [RCV003367565] Chr16:4883715 [GRCh38]
Chr16:4933716 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4085C>G (p.Pro1362Arg) single nucleotide variant Inborn genetic diseases [RCV003353466] Chr16:4884570 [GRCh38]
Chr16:4934571 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.886G>C (p.Glu296Gln) single nucleotide variant Inborn genetic diseases [RCV003346923] Chr16:4897761 [GRCh38]
Chr16:4947762 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.1733C>G (p.Pro578Arg) single nucleotide variant Inborn genetic diseases [RCV003369400] Chr16:4892131 [GRCh38]
Chr16:4942132 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2713C>T (p.Arg905Trp) single nucleotide variant Inborn genetic diseases [RCV003354625] Chr16:4885942 [GRCh38]
Chr16:4935943 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2816A>G (p.Lys939Arg) single nucleotide variant Inborn genetic diseases [RCV003354969] Chr16:4885839 [GRCh38]
Chr16:4935840 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3 copy number gain not provided [RCV003485087] Chr16:4462897..5172225 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4971768-5305499)x3 copy number gain not provided [RCV003485088] Chr16:4971768..5305499 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.318T>C (p.Asp106=) single nucleotide variant not provided [RCV003426573] Chr16:4902526 [GRCh38]
Chr16:4952527 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.4098C>T (p.Ala1366=) single nucleotide variant not provided [RCV003411258] Chr16:4884557 [GRCh38]
Chr16:4934558 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.2402A>G (p.Tyr801Cys) single nucleotide variant not provided [RCV003411259] Chr16:4888214 [GRCh38]
Chr16:4938215 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2735A>T (p.Glu912Val) single nucleotide variant not provided [RCV003426571] Chr16:4885920 [GRCh38]
Chr16:4935921 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2825C>T (p.Pro942Leu) single nucleotide variant not provided [RCV003426570] Chr16:4885830 [GRCh38]
Chr16:4935831 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1011C>T (p.Arg337=) single nucleotide variant not provided [RCV003426572] Chr16:4895678 [GRCh38]
Chr16:4945679 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.3519G>T (p.Lys1173Asn) single nucleotide variant not provided [RCV003542590] Chr16:4885136 [GRCh38]
Chr16:4935137 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4781G>A (p.Arg1594Gln) single nucleotide variant not provided [RCV003886301] Chr16:4883874 [GRCh38]
Chr16:4933875 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1417G>A (p.Val473Met) single nucleotide variant not provided [RCV003417629] Chr16:4893616 [GRCh38]
Chr16:4943617 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.1559G>A (p.Arg520Gln) single nucleotide variant not provided [RCV000969083] Chr16:4893304 [GRCh38]
Chr16:4943305 [GRCh37]
Chr16:16p13.3		 benign
NM_002705.5(PPL):c.1107G>C (p.Lys369Asn) single nucleotide variant Inborn genetic diseases [RCV002873583] Chr16:4895396 [GRCh38]
Chr16:4945397 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2096G>T (p.Arg699Leu) single nucleotide variant Inborn genetic diseases [RCV002892327] Chr16:4890794 [GRCh38]
Chr16:4940795 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2741A>G (p.Lys914Arg) single nucleotide variant Inborn genetic diseases [RCV003210905] Chr16:4885914 [GRCh38]
Chr16:4935915 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.4223G>A (p.Arg1408His) single nucleotide variant Inborn genetic diseases [RCV003356706] Chr16:4884432 [GRCh38]
Chr16:4934433 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.3949G>C (p.Glu1317Gln) single nucleotide variant Inborn genetic diseases [RCV003358685] Chr16:4884706 [GRCh38]
Chr16:4934707 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.4117G>A (p.Glu1373Lys) single nucleotide variant Inborn genetic diseases [RCV003345542] Chr16:4884538 [GRCh38]
Chr16:4934539 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.2449G>C (p.Gly817Arg) single nucleotide variant Inborn genetic diseases [RCV003363300] Chr16:4888167 [GRCh38]
Chr16:4938168 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_002705.5(PPL):c.5247G>C (p.Ala1749=) single nucleotide variant not provided [RCV003417624] Chr16:4883408 [GRCh38]
Chr16:4933409 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.5004G>A (p.Glu1668=) single nucleotide variant not provided [RCV003417625] Chr16:4883651 [GRCh38]
Chr16:4933652 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.4344G>A (p.Val1448=) single nucleotide variant not provided [RCV003417626] Chr16:4884311 [GRCh38]
Chr16:4934312 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.2460C>T (p.Ser820=) single nucleotide variant not provided [RCV003417627] Chr16:4888156 [GRCh38]
Chr16:4938157 [GRCh37]
Chr16:16p13.3		 likely benign
NM_002705.5(PPL):c.2159G>A (p.Arg720His) single nucleotide variant not provided [RCV003417628] Chr16:4890731 [GRCh38]
Chr16:4940732 [GRCh37]
Chr16:16p13.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1487
Count of miRNA genes:771
Interacting mature miRNAs:890
Transcripts:ENST00000345988, ENST00000588556, ENST00000589090, ENST00000590093, ENST00000590782, ENST00000592772
Prediction methods: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
RH65233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,932,616 - 4,932,778UniSTSGRCh37
Build 36164,872,617 - 4,872,779RGDNCBI36
Celera165,141,387 - 5,141,549RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,898,738 - 4,898,900UniSTS
RH15620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,932,119 - 4,932,283UniSTSGRCh37
Build 36164,872,120 - 4,872,284RGDNCBI36
Celera165,140,891 - 5,141,055RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,898,242 - 4,898,406UniSTS
GeneMap99-GB4 RH Map1665.92UniSTS
SHGC-60728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,983,748 - 4,983,883UniSTSGRCh37
Build 36164,923,749 - 4,923,884RGDNCBI36
Celera165,193,126 - 5,193,261RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,949,878 - 4,950,013UniSTS
GeneMap99-GB4 RH Map1669.38UniSTS
Whitehead-RH Map1625.2UniSTS
D16S3214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,932,699 - 4,932,850UniSTSGRCh37
Build 36164,872,700 - 4,872,851RGDNCBI36
Celera165,141,470 - 5,141,621RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,898,821 - 4,898,972UniSTS
GeneMap99-G3 RH Map16208.0UniSTS


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 2 12 1 34 12
Medium 1888 1004 1179 301 179 155 3534 1130 1253 204 867 1512 160 1127 2072 3
Low 539 1520 534 306 574 305 771 1002 1887 210 553 88 3 1 77 716 3 2
Below cutoff 8 458 9 5 1066 5 44 53 585 5 4 11

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF013717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW582622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM673980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS673510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS690893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB665646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM706858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000345988   ⟹   ENSP00000340510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,882,507 - 4,937,148 (-)Ensembl
RefSeq Acc Id: ENST00000588556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,892,755 - 4,893,821 (-)Ensembl
RefSeq Acc Id: ENST00000589090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,888,719 - 4,890,336 (-)Ensembl
RefSeq Acc Id: ENST00000590093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,891,443 - 4,892,179 (-)Ensembl
RefSeq Acc Id: ENST00000590782   ⟹   ENSP00000465640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,882,823 - 4,937,064 (-)Ensembl
RefSeq Acc Id: ENST00000592772   ⟹   ENSP00000467699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,883,572 - 4,960,741 (-)Ensembl
RefSeq Acc Id: NM_002705   ⟹   NP_002696
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,882,507 - 4,937,148 (-)NCBI
GRCh37164,932,508 - 4,987,136 (-)ENTREZGENE
Build 36164,872,509 - 4,927,137 (-)NCBI Archive
HuRef164,898,630 - 4,953,162 (-)ENTREZGENE
CHM1_1164,933,400 - 4,987,985 (-)NCBI
T2T-CHM13v2.0164,911,997 - 4,966,683 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720902   ⟹   XP_006720965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,882,507 - 4,937,148 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023374   ⟹   XP_016878863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,882,507 - 4,936,912 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023375   ⟹   XP_016878864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,882,507 - 4,937,148 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054380583   ⟹   XP_054236558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,911,997 - 4,966,447 (-)NCBI
RefSeq Acc Id: XM_054380584   ⟹   XP_054236559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,911,997 - 4,966,683 (-)NCBI
RefSeq Acc Id: XM_054380585   ⟹   XP_054236560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,911,997 - 4,966,688 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_002696   ⟸   NM_002705
- UniProtKB: O60454 (UniProtKB/Swiss-Prot),   O60437 (UniProtKB/Swiss-Prot),   O60314 (UniProtKB/Swiss-Prot),   Q14C98 (UniProtKB/Swiss-Prot),   K7EKI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006720965   ⟸   XM_006720902
- Peptide Label: isoform X3
- UniProtKB: K7EKI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878864   ⟸   XM_017023375
- Peptide Label: isoform X2
- UniProtKB: K7EKI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878863   ⟸   XM_017023374
- Peptide Label: isoform X1
- UniProtKB: K7EKI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000340510   ⟸   ENST00000345988
RefSeq Acc Id: ENSP00000465640   ⟸   ENST00000590782
RefSeq Acc Id: ENSP00000467699   ⟸   ENST00000592772
RefSeq Acc Id: XP_054236560   ⟸   XM_054380585
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236559   ⟸   XM_054380584
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236558   ⟸   XM_054380583
- Peptide Label: isoform X1
Protein Domains
SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60437-F1-model_v2 AlphaFold O60437 1-1756 view protein structure

Promoters
RGD ID:6793385
Promoter ID:HG_KWN:22952
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_002705
Position:
Human AssemblyChrPosition (strand)Source
Build 36164,926,821 - 4,927,321 (-)MPROMDB
RGD ID:7231247
Promoter ID:EPDNEW_H21369
Type:initiation region
Name:PPL_1
Description:periplakin
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
GRCh38164,937,148 - 4,937,208EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9273 AgrOrtholog
COSMIC PPL COSMIC
Ensembl Genes ENSG00000118898 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000345988 ENTREZGENE
  ENST00000345988.7 UniProtKB/Swiss-Prot
  ENST00000590782.6 UniProtKB/TrEMBL
  ENST00000592772.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.160.780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118898 GTEx
HGNC ID HGNC:9273 ENTREZGENE
Human Proteome Map PPL Human Proteome Map
InterPro Desmoplakin_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plakin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plakin_repeat_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plectin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin/alpha-actinin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5493 UniProtKB/Swiss-Prot
NCBI Gene 5493 ENTREZGENE
OMIM 602871 OMIM
PANTHER PERIPLAKIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SH3_10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33602 PharmGKB
PROSITE SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PLEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Spectrin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF75399 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt K7EKI8 ENTREZGENE, UniProtKB/TrEMBL
  K7EQ71_HUMAN UniProtKB/TrEMBL
  O60314 ENTREZGENE
  O60437 ENTREZGENE
  O60454 ENTREZGENE
  PEPL_HUMAN UniProtKB/Swiss-Prot
  Q14C98 ENTREZGENE
UniProt Secondary O60314 UniProtKB/Swiss-Prot
  O60454 UniProtKB/Swiss-Prot
  Q14C98 UniProtKB/Swiss-Prot