PRKCSH (PRKCSH beta subunit of glucosidase II) - Rat Genome Database

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Gene: PRKCSH (PRKCSH beta subunit of glucosidase II) Homo sapiens
Analyze
Symbol: PRKCSH
Name: PRKCSH beta subunit of glucosidase II (Ensembl:protein kinase C substrate 80K-H)
RGD ID: 1320068
HGNC Page HGNC:9411
Description: Enables phosphoprotein binding activity; protein kinase C binding activity; and transmembrane transporter binding activity. Involved in N-glycan processing. Located in endoplasmic reticulum. Part of glucosidase II complex. Implicated in liver disease and polycystic liver disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 80K-H; advanced glycation end-product receptor 2; AGE-binding receptor 2; AGE-R2; G19P1; GIIB; GIIbeta; glucosidase 2 subunit beta; glucosidase II subunit beta; glucosidase II, beta subunit; GluIIbeta; hepatocystin; PCLD; PCLD1; PKCSH; PLD1; polycystic liver disease; protein kinase C substrate 60.1 kDa protein heavy chain; protein kinase C substrate 80K-H; protein kinase C substrate, 80 Kda protein; VASAP-60
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
GRCh381911,435,635 - 11,450,968 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1911,435,284 - 11,450,968 (+)EnsemblGRCh38hg38GRCh38
GRCh371911,546,456 - 11,561,783 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361911,407,269 - 11,422,783 (+)NCBINCBI36Build 36hg18NCBI36
Build 341911,407,268 - 11,422,783NCBI
Celera1911,441,004 - 11,456,521 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1911,121,465 - 11,136,774 (+)NCBIHuRef
CHM1_11911,546,291 - 11,561,813 (+)NCBICHM1_1
T2T-CHM13v2.01911,563,157 - 11,578,487 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Drenth JP, etal., Hepatology. 2004 Apr;39(4):924-31. doi: 10.1002/hep.20141.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Li A, etal., Am J Hum Genet. 2003 Mar;72(3):691-703. Epub 2003 Jan 15.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Hepatocystin contributes to interferon-mediated antiviral response to hepatitis B virus by regulating hepatocyte nuclear factor 4α. Shin GC, etal., Biochim Biophys Acta. 2014 Sep;1842(9):1648-57. doi: 10.1016/j.bbadis.2014.04.016. Epub 2014 Apr 25.
Additional References at PubMed
PMID:1076483   PMID:2241894   PMID:2793184   PMID:8125298   PMID:8895530   PMID:8910335   PMID:9043864   PMID:9148925   PMID:9846883   PMID:10684806   PMID:10764837   PMID:10764838  
PMID:10929008   PMID:11047756   PMID:12477932   PMID:12577059   PMID:12586822   PMID:12665801   PMID:12841677   PMID:15133510   PMID:15188177   PMID:15342556   PMID:15489334   PMID:15707389  
PMID:16169070   PMID:16344560   PMID:16835903   PMID:18224332   PMID:18303019   PMID:18419150   PMID:18990696   PMID:19061073   PMID:19308730   PMID:19801576   PMID:20000738   PMID:20095989  
PMID:20348541   PMID:20360068   PMID:20408955   PMID:20490454   PMID:21371016   PMID:21653829   PMID:21681021   PMID:21856269   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22190034  
PMID:22863883   PMID:22939629   PMID:23209713   PMID:23326178   PMID:23644164   PMID:24189400   PMID:24244333   PMID:24711643   PMID:24981860   PMID:24999758   PMID:25544563   PMID:25921289  
PMID:26186194   PMID:26344197   PMID:26365003   PMID:26618866   PMID:26638075   PMID:26831064   PMID:26871637   PMID:27248496   PMID:27432908   PMID:27576135   PMID:27880917   PMID:28330616  
PMID:28366632   PMID:28514442   PMID:28581483   PMID:28675297   PMID:28973524   PMID:29117863   PMID:29128334   PMID:29507755   PMID:29568061   PMID:30021884   PMID:30575818   PMID:30711629  
PMID:30948266   PMID:31056421   PMID:31280863   PMID:31300519   PMID:31536960   PMID:31586073   PMID:32203420   PMID:32552912   PMID:32687490   PMID:32694731   PMID:32707033   PMID:32807901  
PMID:32838362   PMID:32877691   PMID:32913203   PMID:32941674   PMID:32963011   PMID:33111431   PMID:33545068   PMID:33762435   PMID:33845483   PMID:33869196   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34597346   PMID:34709727   PMID:35007762   PMID:35032548   PMID:35140242   PMID:35182481   PMID:35254362   PMID:35337019   PMID:35384245   PMID:35446349   PMID:35563538  
PMID:35696571   PMID:35831314   PMID:35944360   PMID:35973989   PMID:36168627   PMID:36215168   PMID:36261009   PMID:36517590   PMID:36610398   PMID:36779763   PMID:38113892   PMID:38245572  


Genomics

Comparative Map Data
PRKCSH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381911,435,635 - 11,450,968 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1911,435,284 - 11,450,968 (+)EnsemblGRCh38hg38GRCh38
GRCh371911,546,456 - 11,561,783 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361911,407,269 - 11,422,783 (+)NCBINCBI36Build 36hg18NCBI36
Build 341911,407,268 - 11,422,783NCBI
Celera1911,441,004 - 11,456,521 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1911,121,465 - 11,136,774 (+)NCBIHuRef
CHM1_11911,546,291 - 11,561,813 (+)NCBICHM1_1
T2T-CHM13v2.01911,563,157 - 11,578,487 (+)NCBIT2T-CHM13v2.0
Prkcsh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39921,914,314 - 21,925,521 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl921,914,102 - 21,925,518 (+)EnsemblGRCm39 Ensembl
GRCm38922,002,988 - 22,014,245 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl922,002,806 - 22,014,222 (+)EnsemblGRCm38mm10GRCm38
MGSCv37921,807,479 - 21,818,666 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36921,753,437 - 21,764,624 (+)NCBIMGSCv36mm8
Celera919,272,723 - 19,283,910 (+)NCBICelera
Cytogenetic Map9A3NCBI
cM Map98.04NCBI
Prkcsh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8828,810,836 - 28,822,503 (+)NCBIGRCr8
mRatBN7.2820,534,787 - 20,546,493 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl820,534,880 - 20,546,492 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx824,563,846 - 24,575,397 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0822,860,989 - 22,872,540 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0820,764,484 - 20,776,034 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0823,014,802 - 23,026,507 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl823,014,956 - 23,026,503 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0823,069,586 - 23,081,291 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4821,107,041 - 21,144,270 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1821,106,881 - 21,117,476 (+)NCBI
Celera821,925,450 - 21,937,160 (+)NCBICelera
Cytogenetic Map8q13NCBI
Prkcsh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554952,331,569 - 2,337,946 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554952,331,075 - 2,338,479 (+)NCBIChiLan1.0ChiLan1.0
PRKCSH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22016,347,888 - 16,363,595 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11915,347,265 - 15,364,284 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01910,981,398 - 10,997,062 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11911,693,620 - 11,707,610 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1911,693,620 - 11,707,728 (+)Ensemblpanpan1.1panPan2
PRKCSH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12049,905,246 - 49,916,551 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2049,905,248 - 49,916,463 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2049,775,959 - 49,787,692 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02050,423,129 - 50,434,871 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2050,423,115 - 50,434,799 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12049,633,425 - 49,645,158 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02050,059,568 - 50,071,314 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02050,302,755 - 50,314,497 (-)NCBIUU_Cfam_GSD_1.0
Prkcsh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118208,843,072 - 208,853,320 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366591,501,419 - 1,511,625 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366591,501,425 - 1,511,634 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRKCSH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl270,097,444 - 70,114,446 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1270,097,424 - 70,114,460 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2270,332,429 - 70,349,468 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PRKCSH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1610,360,392 - 10,375,785 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl610,360,751 - 10,374,208 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660749,511,189 - 9,526,419 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prkcsh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248283,219,216 - 3,227,369 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248283,219,105 - 3,227,369 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRKCSH
282 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001289104.2(PRKCSH):c.1362-2A>G single nucleotide variant Polycystic liver disease 1 [RCV000014143] Chr19:11449074 [GRCh38]
Chr19:11559889 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.292+1G>C single nucleotide variant Polycystic liver disease 1 [RCV000014144] Chr19:11437972 [GRCh38]
Chr19:11548793 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.1461+2_1461+3del deletion Polycystic liver disease 1 [RCV000014145] Chr19:11449176..11449177 [GRCh38]
Chr19:11559991..11559992 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.1261C>T (p.Gln421Ter) single nucleotide variant Polycystic liver disease 1 [RCV000014146] Chr19:11448604 [GRCh38]
Chr19:11559419 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.1290C>G (p.Tyr430Ter) single nucleotide variant Polycystic liver disease 1 [RCV000014147]|not provided [RCV003238724] Chr19:11448917 [GRCh38]
Chr19:11559732 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_001289104.2(PRKCSH):c.215dup (p.Asn72fs) duplication Polycystic liver disease 1 [RCV000014148] Chr19:11437892..11437893 [GRCh38]
Chr19:11548713..11548714 [GRCh37]
Chr19:19p13.2		 pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3 copy number gain See cases [RCV000054109] Chr19:11138895..11549951 [GRCh38]
Chr19:11249571..11660766 [GRCh37]
Chr19:11110571..11521766 [NCBI36]
Chr19:19p13.2		 uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12		 pathogenic
NM_001420.3(ELAVL3):c.1074C>T (p.Ser358=) single nucleotide variant Malignant melanoma [RCV000063428] Chr19:11454556 [GRCh38]
Chr19:11565371 [GRCh37]
Chr19:11426371 [NCBI36]
Chr19:19p13.2		 not provided
NM_001289104.2(PRKCSH):c.1534G>T (p.Glu512Ter) single nucleotide variant not provided [RCV000080024] Chr19:11449338 [GRCh38]
Chr19:11560153 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.79+10_79+12del microsatellite Polycystic liver disease 1 [RCV000281950]|not provided [RCV002055146]|not specified [RCV000080025] Chr19:11436202..11436204 [GRCh38]
Chr19:11547023..11547025 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.850-14T>C single nucleotide variant Polycystic liver disease 1 [RCV000276752]|not provided [RCV001664330]|not specified [RCV000080026] Chr19:11447425 [GRCh38]
Chr19:11558240 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.871G>A (p.Ala291Thr) single nucleotide variant Polycystic liver disease 1 [RCV000381668]|not provided [RCV001537232]|not specified [RCV000080027] Chr19:11447460 [GRCh38]
Chr19:11558275 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.939GGA[8] (p.Glu324_Glu325del) microsatellite not provided [RCV001668195]|not specified [RCV000080028] Chr19:11447526..11447531 [GRCh38]
Chr19:11558341..11558346 [GRCh37]
Chr19:19p13.2		 benign|uncertain significance
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del) microsatellite Polycystic liver disease 1 [RCV000377384]|not provided [RCV001636642]|not specified [RCV000080029] Chr19:11447526..11447528 [GRCh38]
Chr19:11558341..11558343 [GRCh37]
Chr19:19p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001289104.2(PRKCSH):c.1481_1484del (p.Lys494fs) deletion not provided [RCV000175169] Chr19:11449283..11449286 [GRCh38]
Chr19:11560098..11560101 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.362G>T (p.Arg121Leu) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844865] Chr19:11441251 [GRCh38]
Chr19:11552066 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
NM_001289104.2(PRKCSH):c.987GGA[6] (p.Glu333dup) microsatellite not provided [RCV000174068] Chr19:11447573..11447574 [GRCh38]
Chr19:11558388..11558389 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13		 pathogenic
NM_001289104.2(PRKCSH):c.792C>T (p.Asp264=) single nucleotide variant not provided [RCV000153770] Chr19:11447103 [GRCh38]
Chr19:11557918 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) single nucleotide variant Polycystic liver disease 1 [RCV000343756]|not provided [RCV000286797] Chr19:11441305 [GRCh38]
Chr19:11552120 [GRCh37]
Chr19:19p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001289104.2(PRKCSH):c.405C>T (p.Arg135=) single nucleotide variant not provided [RCV003765520]|not specified [RCV000243627] Chr19:11441294 [GRCh38]
Chr19:11552109 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.350+10T>C single nucleotide variant Polycystic liver disease 1 [RCV000292366]|not provided [RCV000966475]|not specified [RCV000251837] Chr19:11438134 [GRCh38]
Chr19:11548955 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.549T>C (p.Ala183=) single nucleotide variant Polycystic liver disease 1 [RCV000358494]|not provided [RCV000966477]|not specified [RCV000247188] Chr19:11442466 [GRCh38]
Chr19:11553281 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.1359T>C (p.Leu453=) single nucleotide variant Polycystic liver disease 1 [RCV000368281]|not provided [RCV000966478]|not specified [RCV000242681] Chr19:11448986 [GRCh38]
Chr19:11559801 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.1378A>G (p.Ile460Val) single nucleotide variant Polycystic liver disease 1 [RCV000273651]|not provided [RCV000966479]|not specified [RCV000247452] Chr19:11449092 [GRCh38]
Chr19:11559907 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.1286+14A>G single nucleotide variant Polycystic liver disease 1 [RCV000403769]|not provided [RCV001570459]|not specified [RCV000250499] Chr19:11448643 [GRCh38]
Chr19:11559458 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.976G>A (p.Ala326Thr) single nucleotide variant Polycystic liver disease 1 [RCV000282905]|not provided [RCV000885100] Chr19:11447565 [GRCh38]
Chr19:11558380 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.469-10G>A single nucleotide variant Polycystic liver disease 1 [RCV000303674]|not provided [RCV000971315] Chr19:11442376 [GRCh38]
Chr19:11553191 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.690G>A (p.Ser230=) single nucleotide variant Polycystic liver disease 1 [RCV000304865] Chr19:11446278 [GRCh38]
Chr19:11557093 [GRCh37]
Chr19:19p13.2		 benign|uncertain significance
NM_001289104.2(PRKCSH):c.1536G>A (p.Glu512=) single nucleotide variant Polycystic liver disease 1 [RCV000270288]|not provided [RCV002057482] Chr19:11449340 [GRCh38]
Chr19:11560155 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.751G>T (p.Ala251Ser) single nucleotide variant Inborn genetic diseases [RCV002521183]|Polycystic liver disease 1 [RCV000260282]|not provided [RCV002523052] Chr19:11446339 [GRCh38]
Chr19:11557154 [GRCh37]
Chr19:19p13.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001289104.2(PRKCSH):c.752C>T (p.Ala251Val) single nucleotide variant Polycystic liver disease 1 [RCV000320183]|not provided [RCV002521184] Chr19:11446340 [GRCh38]
Chr19:11557155 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.*181G>A single nucleotide variant Polycystic liver disease 1 [RCV000320805] Chr19:11450810 [GRCh38]
Chr19:11561625 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.-143G>A single nucleotide variant Polycystic liver disease 1 [RCV000361395] Chr19:11435641 [GRCh38]
Chr19:11546462 [GRCh37]
Chr19:19p13.2		 likely benign
NM_002743.2(PRKCSH):c.-299_-298CT[1] microsatellite Polycystic liver disease 1 [RCV000363863] Chr19:11435485..11435488 [GRCh38]
Chr19:11546306..11546309 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.*150C>T single nucleotide variant Polycystic liver disease 1 [RCV000271602] Chr19:11450779 [GRCh38]
Chr19:11561594 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1392C>T (p.His464=) single nucleotide variant Polycystic liver disease 1 [RCV000369493]|not provided [RCV002521188] Chr19:11449106 [GRCh38]
Chr19:11559921 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.807C>T (p.Tyr269=) single nucleotide variant Polycystic liver disease 1 [RCV000275656]|not provided [RCV000903481] Chr19:11447118 [GRCh38]
Chr19:11557933 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.1590C>T (p.Asp530=) single nucleotide variant Polycystic liver disease 1 [RCV000325400]|not provided [RCV000908679] Chr19:11449394 [GRCh38]
Chr19:11560209 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.-119C>G single nucleotide variant Polycystic liver disease 1 [RCV000317181] Chr19:11435665 [GRCh38]
Chr19:11546486 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_002743.2(PRKCSH):c.-168G>A single nucleotide variant Polycystic liver disease 1 [RCV000320757] Chr19:11435616 [GRCh38]
Chr19:11546437 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.351-5C>T single nucleotide variant Polycystic liver disease 1 [RCV000351971]|not provided [RCV000963694]|not specified [RCV001723913] Chr19:11441235 [GRCh38]
Chr19:11552050 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.850-12C>T single nucleotide variant Polycystic liver disease 1 [RCV000326998] Chr19:11447427 [GRCh38]
Chr19:11558242 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.*185T>C single nucleotide variant Polycystic liver disease 1 [RCV000380055] Chr19:11450814 [GRCh38]
Chr19:11561629 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.454C>T (p.Arg152Trp) single nucleotide variant Polycystic liver disease 1 [RCV000402801]|not provided [RCV000905058] Chr19:11441343 [GRCh38]
Chr19:11552158 [GRCh37]
Chr19:19p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001289104.2(PRKCSH):c.823G>A (p.Ala275Thr) single nucleotide variant Inborn genetic diseases [RCV002521186]|Polycystic liver disease 1 [RCV000330692]|not provided [RCV002521185]|not specified [RCV003151029] Chr19:11447134 [GRCh38]
Chr19:11557949 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.*16+6C>T single nucleotide variant Polycystic liver disease 1 [RCV000384663] Chr19:11449434 [GRCh38]
Chr19:11560249 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.834C>T (p.Asp278=) single nucleotide variant Polycystic liver disease 1 [RCV000389862]|not provided [RCV002057481] Chr19:11447145 [GRCh38]
Chr19:11557960 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_002743.2(PRKCSH):c.-193G>A single nucleotide variant Polycystic liver disease 1 [RCV000265649] Chr19:11435591 [GRCh38]
Chr19:11546412 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1260C>T (p.Ser420=) single nucleotide variant Polycystic liver disease 1 [RCV000334486]|not provided [RCV003546531] Chr19:11448603 [GRCh38]
Chr19:11559418 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.753G>A (p.Ala251=) single nucleotide variant Polycystic liver disease 1 [RCV000356348] Chr19:11446341 [GRCh38]
Chr19:11557156 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.628G>A (p.Glu210Lys) single nucleotide variant PRKCSH-related condition [RCV003957675]|Polycystic liver disease 1 [RCV000406051]|not provided [RCV000884648] Chr19:11445418 [GRCh38]
Chr19:11556233 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.914C>T (p.Pro305Leu) single nucleotide variant Polycystic liver disease 1 [RCV000291965]|not provided [RCV003556342] Chr19:11447503 [GRCh38]
Chr19:11558318 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1197-14G>A single nucleotide variant Polycystic liver disease 1 [RCV000407901]|not provided [RCV002521187] Chr19:11448526 [GRCh38]
Chr19:11559341 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.1384C>T (p.Pro462Ser) single nucleotide variant Polycystic liver disease 1 [RCV000314831] Chr19:11449098 [GRCh38]
Chr19:11559913 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1092G>A (p.Pro364=) single nucleotide variant Polycystic liver disease 1 [RCV000342633]|not provided [RCV000958237] Chr19:11447755 [GRCh38]
Chr19:11558570 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.327C>T (p.Gly109=) single nucleotide variant Polycystic liver disease 1 [RCV000386598]|not provided [RCV003765900] Chr19:11438101 [GRCh38]
Chr19:11548922 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.1292T>C (p.Val431Ala) single nucleotide variant Polycystic liver disease 1 [RCV000299379]|not provided [RCV001431404] Chr19:11448919 [GRCh38]
Chr19:11559734 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.930G>A (p.Ser310=) single nucleotide variant PRKCSH-related condition [RCV003950122]|Polycystic liver disease 1 [RCV000346852]|not provided [RCV000879468] Chr19:11447519 [GRCh38]
Chr19:11558334 [GRCh37]
Chr19:19p13.2		 benign|likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.393C>T (p.Ala131=) single nucleotide variant Polycystic liver disease 1 [RCV000407570] Chr19:11441282 [GRCh38]
Chr19:11552097 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.82C>T (p.His28Tyr) single nucleotide variant Polycystic liver disease 1 [RCV000318115]|not provided [RCV003727684] Chr19:11436391 [GRCh38]
Chr19:11547212 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.-130C>T single nucleotide variant Polycystic liver disease 1 [RCV000266677] Chr19:11435654 [GRCh38]
Chr19:11546475 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_002743.2(PRKCSH):c.-336G>A single nucleotide variant Polycystic liver disease 1 [RCV000306808] Chr19:11435448 [GRCh38]
Chr19:11546269 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.684-288G>T single nucleotide variant not provided [RCV001547969] Chr19:11445984 [GRCh38]
Chr19:11556799 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.-105T>C single nucleotide variant Polycystic liver disease 1 [RCV000371718] Chr19:11435679 [GRCh38]
Chr19:11546500 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1204G>A (p.Glu402Lys) single nucleotide variant Polycystic liver disease 1 [RCV000298261] Chr19:11448547 [GRCh38]
Chr19:11559362 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.702G>A (p.Leu234=) single nucleotide variant Polycystic liver disease 1 [RCV000355117] Chr19:11446290 [GRCh38]
Chr19:11557105 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.404G>T (p.Arg135Leu) single nucleotide variant Polycystic liver disease 1 [RCV000288829] Chr19:11441293 [GRCh38]
Chr19:11552108 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
NM_001289104.2(PRKCSH):c.1416T>G (p.Tyr472Ter) single nucleotide variant Polycystic liver disease 1 [RCV000584819] Chr19:11449130 [GRCh38]
Chr19:11559945 [GRCh37]
Chr19:19p13.2		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_001289104.2(PRKCSH):c.829A>G (p.Arg277Gly) single nucleotide variant Inborn genetic diseases [RCV003308512] Chr19:11447140 [GRCh38]
Chr19:11557955 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001289104.2(PRKCSH):c.1286+45C>T single nucleotide variant not provided [RCV001643945] Chr19:11448674 [GRCh38]
Chr19:11559489 [GRCh37]
Chr19:19p13.2		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001289104.2(PRKCSH):c.469-117T>G single nucleotide variant not provided [RCV001583379] Chr19:11442269 [GRCh38]
Chr19:11553084 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.*16+104T>G single nucleotide variant not provided [RCV001691638] Chr19:11449532 [GRCh38]
Chr19:11560347 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.196+129A>C single nucleotide variant not provided [RCV001545704] Chr19:11436634 [GRCh38]
Chr19:11547455 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.469-291= variation not provided [RCV001534703] Chr19:11442095 [GRCh38]
Chr19:11552910 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.762+216C>T single nucleotide variant not provided [RCV001535188] Chr19:11446566 [GRCh38]
Chr19:11557381 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.196+180C>T single nucleotide variant not provided [RCV001645394] Chr19:11436685 [GRCh38]
Chr19:11547506 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.741G>A (p.Ala247=) single nucleotide variant not provided [RCV000939803] Chr19:11446329 [GRCh38]
Chr19:11557144 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1528C>A (p.Leu510Ile) single nucleotide variant Inborn genetic diseases [RCV003267511] Chr19:11449332 [GRCh38]
Chr19:11560147 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.762+2T>C single nucleotide variant Polycystic liver disease 1 [RCV001784401]|not provided [RCV000788853] Chr19:11446352 [GRCh38]
Chr19:11557167 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_001289104.2(PRKCSH):c.681G>C (p.Gly227=) single nucleotide variant not provided [RCV000972334] Chr19:11445471 [GRCh38]
Chr19:11556286 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.79+12_79+23dup duplication not provided [RCV000949051] Chr19:11436202..11436203 [GRCh38]
Chr19:11547023..11547024 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.-77-2A>C single nucleotide variant Polycystic liver disease 1 [RCV000778540] Chr19:11436039 [GRCh38]
Chr19:11546860 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.80-7C>G single nucleotide variant not provided [RCV000887264] Chr19:11436382 [GRCh38]
Chr19:11547203 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.351-10C>T single nucleotide variant not provided [RCV000977311] Chr19:11441230 [GRCh38]
Chr19:11552045 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.939GGA[7] (p.Glu323_Glu325del) microsatellite not provided [RCV000885917] Chr19:11447526..11447534 [GRCh38]
Chr19:11558341..11558349 [GRCh37]
Chr19:19p13.2		 benign|likely benign
Single allele deletion not provided [RCV000844961] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2		 not provided
NM_001289104.2(PRKCSH):c.975G>A (p.Glu325=) single nucleotide variant Polycystic liver disease 1 [RCV002502869]|not provided [RCV000937169] Chr19:11447564 [GRCh38]
Chr19:11558379 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.781A>T (p.Thr261Ser) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844883] Chr19:11447092 [GRCh38]
Chr19:11557907 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1165C>T (p.Arg389Trp) single nucleotide variant not provided [RCV003313669] Chr19:11448260 [GRCh38]
Chr19:11559075 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1196+6G>T single nucleotide variant Polycystic liver disease 1 [RCV001127813] Chr19:11448297 [GRCh38]
Chr19:11559112 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.22C>A (p.Leu8Met) single nucleotide variant Polycystic liver disease 1 [RCV001125628]|not provided [RCV002558239] Chr19:11436139 [GRCh38]
Chr19:11546960 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.678C>T (p.Asp226=) single nucleotide variant Polycystic liver disease 1 [RCV001123633] Chr19:11445468 [GRCh38]
Chr19:11556283 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.685G>A (p.Val229Ile) single nucleotide variant Polycystic liver disease 1 [RCV001123634] Chr19:11446273 [GRCh38]
Chr19:11557088 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1551C>T (p.Ala517=) single nucleotide variant not provided [RCV003106437] Chr19:11449355 [GRCh38]
Chr19:11560170 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_11277234)_(13249220_?)dup duplication not provided [RCV003105511] Chr19:11277234..13249220 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.197-23C>A single nucleotide variant not provided [RCV001554999] Chr19:11437853 [GRCh38]
Chr19:11548674 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.849+55C>A single nucleotide variant not provided [RCV001564845] Chr19:11447215 [GRCh38]
Chr19:11558030 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1554C>T (p.Ala518=) single nucleotide variant not provided [RCV002284733] Chr19:11449358 [GRCh38]
Chr19:11560173 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.468+296G>C single nucleotide variant not provided [RCV001556673] Chr19:11441653 [GRCh38]
Chr19:11552468 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.763-235TC[2] microsatellite not provided [RCV001669485] Chr19:11446839..11446840 [GRCh38]
Chr19:11557654..11557655 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.599-73C>T single nucleotide variant not provided [RCV001639779] Chr19:11445316 [GRCh38]
Chr19:11556131 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.76_79+4dup duplication Autosomal dominant polycystic liver disease [RCV001844867] Chr19:11436192..11436193 [GRCh38]
Chr19:11547013..11547014 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001289104.2(PRKCSH):c.1462-1G>T single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844872] Chr19:11449265 [GRCh38]
Chr19:11560080 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001289104.2(PRKCSH):c.-78+38T>C single nucleotide variant ODAD3-related condition [RCV003921257]|Primary ciliary dyskinesia 30 [RCV003120646]|not provided [RCV001594708] Chr19:11435744 [GRCh38]
Chr19:11546565 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.60C>T (p.Pro20=) single nucleotide variant Polycystic liver disease 1 [RCV002505384]|not provided [RCV000932314] Chr19:11436177 [GRCh38]
Chr19:11546998 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1055C>T (p.Pro352Leu) single nucleotide variant Polycystic liver disease 1 [RCV001127812]|not provided [RCV000918273] Chr19:11447718 [GRCh38]
Chr19:11558533 [GRCh37]
Chr19:19p13.2		 benign|conflicting interpretations of pathogenicity
NM_001289104.2(PRKCSH):c.763-5C>T single nucleotide variant not provided [RCV000939403] Chr19:11447069 [GRCh38]
Chr19:11557884 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1559C>T (p.Pro520Leu) single nucleotide variant Inborn genetic diseases [RCV002556705]|Polycystic liver disease 1 [RCV001124803]|not provided [RCV001862903] Chr19:11449363 [GRCh38]
Chr19:11560178 [GRCh37]
Chr19:19p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001289104.2(PRKCSH):c.1569G>T (p.Pro523=) single nucleotide variant Polycystic liver disease 1 [RCV001124804]|not provided [RCV002558232] Chr19:11449373 [GRCh38]
Chr19:11560188 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.888C>T (p.Asp296=) single nucleotide variant Polycystic liver disease 1 [RCV001125710] Chr19:11447477 [GRCh38]
Chr19:11558292 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.*329C>A single nucleotide variant Polycystic liver disease 1 [RCV001125796] Chr19:11450958 [GRCh38]
Chr19:11561773 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.795C>T (p.Ala265=) single nucleotide variant not provided [RCV000911214] Chr19:11447106 [GRCh38]
Chr19:11557921 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.822C>T (p.Ala274=) single nucleotide variant PRKCSH-related condition [RCV003923172]|not provided [RCV000911938] Chr19:11447133 [GRCh38]
Chr19:11557948 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.1387G>A (p.Asp463Asn) single nucleotide variant not provided [RCV002857919] Chr19:11449101 [GRCh38]
Chr19:11559916 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.197-65G>A single nucleotide variant not provided [RCV001547956] Chr19:11437811 [GRCh38]
Chr19:11548632 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.762+75dup duplication not provided [RCV001688745] Chr19:11446420..11446421 [GRCh38]
Chr19:11557235..11557236 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.468+297G>A single nucleotide variant not provided [RCV001641521] Chr19:11441654 [GRCh38]
Chr19:11552469 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.350+5G>A single nucleotide variant not provided [RCV003231874] Chr19:11438129 [GRCh38]
Chr19:11548950 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1461+23A>T single nucleotide variant not provided [RCV001561123] Chr19:11449198 [GRCh38]
Chr19:11560013 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1461+22G>T single nucleotide variant not provided [RCV001561301] Chr19:11449197 [GRCh38]
Chr19:11560012 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3 copy number gain not provided [RCV001007032] Chr19:11445773..12160664 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1030-37G>A single nucleotide variant not provided [RCV001592274] Chr19:11447656 [GRCh38]
Chr19:11558471 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.939GGA[11] (p.Glu325dup) microsatellite not provided [RCV001659603]|not specified [RCV003151345] Chr19:11447525..11447526 [GRCh38]
Chr19:11558340..11558341 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.1029+18A>G single nucleotide variant not provided [RCV001686384] Chr19:11447636 [GRCh38]
Chr19:11558451 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.*16+48C>T single nucleotide variant not provided [RCV001564501] Chr19:11449476 [GRCh38]
Chr19:11560291 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.468+106C>T single nucleotide variant not provided [RCV001586996] Chr19:11441463 [GRCh38]
Chr19:11552278 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.*17-12C>G single nucleotide variant Polycystic liver disease 1 [RCV001124805] Chr19:11450634 [GRCh38]
Chr19:11561449 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.176A>G (p.Lys59Arg) single nucleotide variant Polycystic liver disease 1 [RCV001125630]|not provided [RCV002070048] Chr19:11436485 [GRCh38]
Chr19:11547306 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.*249C>T single nucleotide variant Polycystic liver disease 1 [RCV001125793] Chr19:11450878 [GRCh38]
Chr19:11561693 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.*279G>T single nucleotide variant Polycystic liver disease 1 [RCV001125794] Chr19:11450908 [GRCh38]
Chr19:11561723 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.*321A>G single nucleotide variant Polycystic liver disease 1 [RCV001125795] Chr19:11450950 [GRCh38]
Chr19:11561765 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1470C>T (p.Leu490=) single nucleotide variant Polycystic liver disease 1 [RCV001122039] Chr19:11449274 [GRCh38]
Chr19:11560089 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.234C>T (p.Thr78=) single nucleotide variant Polycystic liver disease 1 [RCV001127716] Chr19:11437913 [GRCh38]
Chr19:11548734 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1395C>T (p.Asp465=) single nucleotide variant Polycystic liver disease 1 [RCV001122038] Chr19:11449109 [GRCh38]
Chr19:11559924 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1254G>A (p.Leu418=) single nucleotide variant Polycystic liver disease 1 [RCV001127814] Chr19:11448597 [GRCh38]
Chr19:11559412 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.763-192T>C single nucleotide variant not provided [RCV001691478] Chr19:11446882 [GRCh38]
Chr19:11557697 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.1126+98G>C single nucleotide variant not provided [RCV001583503] Chr19:11447887 [GRCh38]
Chr19:11558702 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.849+77T>C single nucleotide variant not provided [RCV001692946] Chr19:11447237 [GRCh38]
Chr19:11558052 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.469-191C>T single nucleotide variant not provided [RCV001583943] Chr19:11442195 [GRCh38]
Chr19:11553010 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1287-33G>A single nucleotide variant not provided [RCV001684788] Chr19:11448881 [GRCh38]
Chr19:11559696 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.1411A>G (p.Lys471Glu) single nucleotide variant not provided [RCV001249129] Chr19:11449125 [GRCh38]
Chr19:11559940 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.*106G>A single nucleotide variant Polycystic liver disease 1 [RCV001124806] Chr19:11450735 [GRCh38]
Chr19:11561550 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1343G>A (p.Gly448Asp) single nucleotide variant Inborn genetic diseases [RCV003353201]|not provided [RCV001200617] Chr19:11448970 [GRCh38]
Chr19:11559785 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1291G>A (p.Val431Ile) single nucleotide variant Inborn genetic diseases [RCV002556625]|Polycystic liver disease 1 [RCV001122037]|not provided [RCV001566088] Chr19:11448918 [GRCh38]
Chr19:11559733 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.969A>G (p.Glu323=) single nucleotide variant Polycystic liver disease 1 [RCV001125711] Chr19:11447558 [GRCh38]
Chr19:11558373 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2(chr19:10642984-12810067) copy number loss not provided [RCV001249213] Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2		 not provided
NM_001289104.2(PRKCSH):c.1281C>G (p.Thr427=) single nucleotide variant not provided [RCV001249127] Chr19:11448624 [GRCh38]
Chr19:11559439 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.847G>A (p.Glu283Lys) single nucleotide variant Polycystic liver disease 1 [RCV001124703] Chr19:11447158 [GRCh38]
Chr19:11557973 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.37T>C (p.Trp13Arg) single nucleotide variant Polycystic liver disease 1 [RCV001125629]|not provided [RCV003574835] Chr19:11436154 [GRCh38]
Chr19:11546975 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.862G>A (p.Asp288Asn) single nucleotide variant Inborn genetic diseases [RCV003293892]|Polycystic liver disease 1 [RCV001125709]|not provided [RCV001856648] Chr19:11447451 [GRCh38]
Chr19:11558266 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.763-41C>T single nucleotide variant Polycystic liver disease 1 [RCV001262470] Chr19:11447033 [GRCh38]
Chr19:11557848 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1 copy number loss See cases [RCV001263055] Chr19:10957601..11672041 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.1191dup (p.Ile398fs) duplication Polycystic liver disease 1 [RCV001280887] Chr19:11448284..11448285 [GRCh38]
Chr19:11559099..11559100 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs) microsatellite Polycystic liver disease 1 [RCV001535991] Chr19:11442475..11442478 [GRCh38]
Chr19:11553290..11553293 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001289104.2(PRKCSH):c.300C>A (p.Cys100Ter) single nucleotide variant Polycystic liver disease 1 [RCV001280825] Chr19:11438074 [GRCh38]
Chr19:11548895 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001289104.2(PRKCSH):c.809A>T (p.Asp270Val) single nucleotide variant not provided [RCV001356203] Chr19:11447120 [GRCh38]
Chr19:11557935 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1290C>A (p.Tyr430Ter) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844860] Chr19:11448917 [GRCh38]
Chr19:11559732 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844861]|Polycystic liver disease 1 [RCV002488450]|not provided [RCV002539633] Chr19:11447152 [GRCh38]
Chr19:11557967 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) microsatellite Autosomal dominant polycystic liver disease [RCV001844857]|PRKCSH-related condition [RCV003426055]|Polycystic liver disease 1 [RCV001353243] Chr19:11441256..11441257 [GRCh38]
Chr19:11552071..11552072 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.1196+52A>G single nucleotide variant not provided [RCV001538447] Chr19:11448343 [GRCh38]
Chr19:11559158 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.850-106G>A single nucleotide variant not provided [RCV001584845] Chr19:11447333 [GRCh38]
Chr19:11558148 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.763-176C>T single nucleotide variant not provided [RCV001670098] Chr19:11446898 [GRCh38]
Chr19:11557713 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.79+1G>C single nucleotide variant not provided [RCV001377257] Chr19:11436197 [GRCh38]
Chr19:11547018 [GRCh37]
Chr19:19p13.2		 likely pathogenic
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 copy number gain not provided [RCV001834267] Chr19:9941033..11739567 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_10828919)_(13482613_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate B [RCV003109233]|Deficiency of alpha-mannosidase [RCV003109232]|Episodic ataxia type 2 [RCV003109234]|Glutaric aciduria, type 1 [RCV003122092] Chr19:10828919..13482613 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_002743.3(PRKCSH):c.263C>T (p.Pro88Leu) single nucleotide variant not provided [RCV002255225] Chr19:11437942 [GRCh38]
Chr19:11548763 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.588G>T (p.Lys196Asn) single nucleotide variant not provided [RCV001863950] Chr19:11442505 [GRCh38]
Chr19:11553320 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.988G>A (p.Glu330Lys) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844976] Chr19:11447577 [GRCh38]
Chr19:11558392 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.487C>T (p.Gln163Ter) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844996] Chr19:11442404 [GRCh38]
Chr19:11553219 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.96T>G (p.Asp32Glu) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001845017]|not provided [RCV002539637] Chr19:11436405 [GRCh38]
Chr19:11547226 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.228C>G (p.His76Gln) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844967] Chr19:11437907 [GRCh38]
Chr19:11548728 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001289104.2(PRKCSH):c.188A>C (p.Asp63Ala) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001845007] Chr19:11436497 [GRCh38]
Chr19:11547318 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001289104.2(PRKCSH):c.1040C>T (p.Pro347Leu) single nucleotide variant not provided [RCV001894015] Chr19:11447703 [GRCh38]
Chr19:11558518 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.430_432delinsAATAAGG (p.Leu144fs) indel Autosomal dominant polycystic liver disease [RCV001844956] Chr19:11441319..11441321 [GRCh38]
Chr19:11552134..11552136 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.464A>G (p.Lys155Arg) single nucleotide variant Autosomal dominant polycystic liver disease [RCV001844927] Chr19:11441353 [GRCh38]
Chr19:11552168 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001289104.2(PRKCSH):c.939GGA[13] (p.Glu323_Glu325dup) microsatellite not provided [RCV002039921] Chr19:11447525..11447526 [GRCh38]
Chr19:11558340..11558341 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.251C>T (p.Pro84Leu) single nucleotide variant Inborn genetic diseases [RCV002557626]|Polycystic liver disease 1 [RCV002478360]|not provided [RCV001909704] Chr19:11437930 [GRCh38]
Chr19:11548751 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1362-10TC[2] microsatellite not provided [RCV001960955] Chr19:11449066..11449067 [GRCh38]
Chr19:11559881..11559882 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.543G>C (p.Glu181Asp) single nucleotide variant Polycystic liver disease 1 [RCV002491972]|not provided [RCV001931358] Chr19:11442460 [GRCh38]
Chr19:11553275 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1283A>C (p.Asn428Thr) single nucleotide variant Inborn genetic diseases [RCV002547897]|Polycystic liver disease 1 [RCV002482447]|not provided [RCV001869929] Chr19:11448626 [GRCh38]
Chr19:11559441 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.362G>A (p.Arg121His) single nucleotide variant not provided [RCV001952558] Chr19:11441251 [GRCh38]
Chr19:11552066 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.353dup (p.Lys119fs) duplication not provided [RCV001955229] Chr19:11441241..11441242 [GRCh38]
Chr19:11552056..11552057 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.987GGA[4] (p.Glu333del) microsatellite not provided [RCV002034156] Chr19:11447574..11447576 [GRCh38]
Chr19:11558389..11558391 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.730G>A (p.Gly244Arg) single nucleotide variant not provided [RCV001961390] Chr19:11446318 [GRCh38]
Chr19:11557133 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1099G>A (p.Asp367Asn) single nucleotide variant Polycystic liver disease 1 [RCV002479662]|not provided [RCV001998779] Chr19:11447762 [GRCh38]
Chr19:11558577 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.627G>T (p.Gln209His) single nucleotide variant Inborn genetic diseases [RCV002569261]|Polycystic liver disease 1 [RCV002479605]|not provided [RCV001959499] Chr19:11445417 [GRCh38]
Chr19:11556232 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.683C>T (p.Thr228Met) single nucleotide variant Polycystic liver disease 1 [RCV002482736]|not provided [RCV001900836] Chr19:11445473 [GRCh38]
Chr19:11556288 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1005C>T (p.Ser335=) single nucleotide variant Polycystic liver disease 1 [RCV002507890]|not provided [RCV002187551] Chr19:11447594 [GRCh38]
Chr19:11558409 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.683+1G>A single nucleotide variant Polycystic liver disease 1 [RCV002249140] Chr19:11445474 [GRCh38]
Chr19:11556289 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001289104.2(PRKCSH):c.1030-20_1030-17del deletion not provided [RCV002174767] Chr19:11447671..11447674 [GRCh38]
Chr19:11558486..11558489 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.112A>G (p.Thr38Ala) single nucleotide variant not provided [RCV002087134] Chr19:11436421 [GRCh38]
Chr19:11547242 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.38G>C (p.Trp13Ser) single nucleotide variant not provided [RCV002097016] Chr19:11436155 [GRCh38]
Chr19:11546976 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.683+9C>A single nucleotide variant Polycystic liver disease 1 [RCV002498152]|not provided [RCV002175097] Chr19:11445482 [GRCh38]
Chr19:11556297 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.1338C>T (p.Leu446=) single nucleotide variant Polycystic liver disease 1 [RCV002496127]|not provided [RCV002194393] Chr19:11448965 [GRCh38]
Chr19:11559780 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.1476C>T (p.Cys492=) single nucleotide variant Polycystic liver disease 1 [RCV002494386]|not provided [RCV002114184] Chr19:11449280 [GRCh38]
Chr19:11560095 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.809A>G (p.Asp270Gly) single nucleotide variant not provided [RCV002080892] Chr19:11447120 [GRCh38]
Chr19:11557935 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.684-11C>T single nucleotide variant not provided [RCV002174723] Chr19:11446261 [GRCh38]
Chr19:11557076 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.279C>T (p.Asn93=) single nucleotide variant Polycystic liver disease 1 [RCV002505796]|not provided [RCV002131516] Chr19:11437958 [GRCh38]
Chr19:11548779 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.345C>T (p.Thr115=) single nucleotide variant not provided [RCV002071783] Chr19:11438119 [GRCh38]
Chr19:11548940 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.966G>A (p.Glu322=) single nucleotide variant not provided [RCV002193544] Chr19:11447555 [GRCh38]
Chr19:11558370 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.324C>T (p.Ser108=) single nucleotide variant PRKCSH-related condition [RCV003951085]|Polycystic liver disease 1 [RCV002479912]|not provided [RCV002117735] Chr19:11438098 [GRCh38]
Chr19:11548919 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.468+11C>T single nucleotide variant not provided [RCV002119131] Chr19:11441368 [GRCh38]
Chr19:11552183 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.438G>A (p.Glu146=) single nucleotide variant Polycystic liver disease 1 [RCV002494040]|not provided [RCV002179456] Chr19:11441327 [GRCh38]
Chr19:11552142 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.1127-19C>T single nucleotide variant not provided [RCV002122984] Chr19:11448203 [GRCh38]
Chr19:11559018 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.12G>C (p.Pro4=) single nucleotide variant not provided [RCV002154343] Chr19:11436129 [GRCh38]
Chr19:11546950 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1462-20A>G single nucleotide variant not provided [RCV002198340] Chr19:11449246 [GRCh38]
Chr19:11560061 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1362C>T (p.Gly454=) single nucleotide variant See cases [RCV002252904] Chr19:11449076 [GRCh38]
Chr19:11559891 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.339G>C (p.Glu113Asp) single nucleotide variant not provided [RCV002287093] Chr19:11438113 [GRCh38]
Chr19:11548934 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1236C>T (p.Asn412=) single nucleotide variant not specified [RCV003151618] Chr19:11448579 [GRCh38]
Chr19:11559394 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1521C>T (p.Cys507=) single nucleotide variant not provided [RCV002464747] Chr19:11449325 [GRCh38]
Chr19:11560140 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.292+2dup duplication not provided [RCV002473423] Chr19:11437972..11437973 [GRCh38]
Chr19:11548793..11548794 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1241A>C (p.Glu414Ala) single nucleotide variant not provided [RCV003129497] Chr19:11448584 [GRCh38]
Chr19:11559399 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.133A>G (p.Thr45Ala) single nucleotide variant not provided [RCV002299823] Chr19:11436442 [GRCh38]
Chr19:11547263 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1462-18C>G single nucleotide variant not provided [RCV002681840] Chr19:11449248 [GRCh38]
Chr19:11560063 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.917C>T (p.Pro306Leu) single nucleotide variant not provided [RCV002726304] Chr19:11447506 [GRCh38]
Chr19:11558321 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.12GCT[6] (p.Leu9_Pro10insLeu) microsatellite not provided [RCV003099076] Chr19:11436128..11436129 [GRCh38]
Chr19:11546949..11546950 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1158G>T (p.Glu386Asp) single nucleotide variant Inborn genetic diseases [RCV002902653] Chr19:11448253 [GRCh38]
Chr19:11559068 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.929C>T (p.Ser310Leu) single nucleotide variant Inborn genetic diseases [RCV002778521] Chr19:11447518 [GRCh38]
Chr19:11558333 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.762+4C>T single nucleotide variant not provided [RCV002690131] Chr19:11446354 [GRCh38]
Chr19:11557169 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1363A>G (p.Thr455Ala) single nucleotide variant Inborn genetic diseases [RCV002731870] Chr19:11449077 [GRCh38]
Chr19:11559892 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.939GGA[6] (p.Glu322_Glu325del) microsatellite not provided [RCV002904782] Chr19:11447526..11447537 [GRCh38]
Chr19:11558341..11558352 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1180A>G (p.Met394Val) single nucleotide variant Inborn genetic diseases [RCV002840469] Chr19:11448275 [GRCh38]
Chr19:11559090 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.865C>T (p.Leu289Phe) single nucleotide variant not provided [RCV002731087] Chr19:11447454 [GRCh38]
Chr19:11558269 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.861C>T (p.Thr287=) single nucleotide variant PRKCSH-related condition [RCV003926737]|not provided [RCV002616779] Chr19:11447450 [GRCh38]
Chr19:11558265 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001289104.2(PRKCSH):c.939GGA[5] (p.Glu321_Glu325del) microsatellite not provided [RCV002994865] Chr19:11447526..11447540 [GRCh38]
Chr19:11558341..11558355 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1339G>A (p.Gly447Arg) single nucleotide variant not provided [RCV002614452] Chr19:11448966 [GRCh38]
Chr19:11559781 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.118C>A (p.Leu40Met) single nucleotide variant not provided [RCV002816635] Chr19:11436427 [GRCh38]
Chr19:11547248 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.762+8C>T single nucleotide variant not provided [RCV002751531] Chr19:11446358 [GRCh38]
Chr19:11557173 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1197-15C>T single nucleotide variant not provided [RCV002638769] Chr19:11448525 [GRCh38]
Chr19:11559340 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.123C>A (p.Asp41Glu) single nucleotide variant not provided [RCV002623232] Chr19:11436432 [GRCh38]
Chr19:11547253 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.292+16C>T single nucleotide variant not provided [RCV003039599] Chr19:11437987 [GRCh38]
Chr19:11548808 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.361C>T (p.Arg121Cys) single nucleotide variant not provided [RCV002923854] Chr19:11441250 [GRCh38]
Chr19:11552065 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.680G>A (p.Gly227Glu) single nucleotide variant Inborn genetic diseases [RCV002782427] Chr19:11445470 [GRCh38]
Chr19:11556285 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1122C>G (p.Ile374Met) single nucleotide variant not provided [RCV002619047] Chr19:11447785 [GRCh38]
Chr19:11558600 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1071T>C (p.Pro357=) single nucleotide variant not provided [RCV002639224] Chr19:11447734 [GRCh38]
Chr19:11558549 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.201G>C (p.Thr67=) single nucleotide variant not provided [RCV002866996] Chr19:11437880 [GRCh38]
Chr19:11548701 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.197-11C>T single nucleotide variant not provided [RCV002591064] Chr19:11437865 [GRCh38]
Chr19:11548686 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.969AGA[1] (p.Glu325del) microsatellite not provided [RCV002866736] Chr19:11447556..11447558 [GRCh38]
Chr19:11558371..11558373 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.812G>A (p.Arg271His) single nucleotide variant not provided [RCV002976351]|not specified [RCV003151433] Chr19:11447123 [GRCh38]
Chr19:11557938 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001289104.2(PRKCSH):c.806A>G (p.Tyr269Cys) single nucleotide variant Inborn genetic diseases [RCV002822549] Chr19:11447117 [GRCh38]
Chr19:11557932 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.898C>T (p.Pro300Ser) single nucleotide variant Inborn genetic diseases [RCV002950641] Chr19:11447487 [GRCh38]
Chr19:11558302 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.67G>C (p.Val23Leu) single nucleotide variant Inborn genetic diseases [RCV002694455] Chr19:11436184 [GRCh38]
Chr19:11547005 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1000G>T (p.Asp334Tyr) single nucleotide variant Inborn genetic diseases [RCV002925334] Chr19:11447589 [GRCh38]
Chr19:11558404 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1461+20G>T single nucleotide variant not provided [RCV002569544] Chr19:11449195 [GRCh38]
Chr19:11560010 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.811C>T (p.Arg271Cys) single nucleotide variant not provided [RCV002636588] Chr19:11447122 [GRCh38]
Chr19:11557937 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.684G>A (p.Thr228=) single nucleotide variant not provided [RCV002927247] Chr19:11446272 [GRCh38]
Chr19:11557087 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.960_1001del (p.Glu320_Glu333del) deletion not provided [RCV002824592] Chr19:11447532..11447573 [GRCh38]
Chr19:11558347..11558388 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.80-8C>T single nucleotide variant not provided [RCV002795210] Chr19:11436381 [GRCh38]
Chr19:11547202 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1287-12G>A single nucleotide variant not provided [RCV002570296] Chr19:11448902 [GRCh38]
Chr19:11559717 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1197-19G>T single nucleotide variant not provided [RCV003001912] Chr19:11448521 [GRCh38]
Chr19:11559336 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.713C>T (p.Pro238Leu) single nucleotide variant Inborn genetic diseases [RCV002620535]|not provided [RCV002620536] Chr19:11446301 [GRCh38]
Chr19:11557116 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1144A>G (p.Asn382Asp) single nucleotide variant not provided [RCV003020511] Chr19:11448239 [GRCh38]
Chr19:11559054 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.349A>C (p.Lys117Gln) single nucleotide variant Inborn genetic diseases [RCV002958976]|not provided [RCV002958977] Chr19:11438123 [GRCh38]
Chr19:11548944 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.372_375del (p.Arg124fs) microsatellite not provided [RCV002791244] Chr19:11441256..11441259 [GRCh38]
Chr19:11552071..11552074 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.1393G>A (p.Asp465Asn) single nucleotide variant not provided [RCV002595222] Chr19:11449107 [GRCh38]
Chr19:11559922 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.939GGA[12] (p.Glu325_Ala326insGluGlu) microsatellite not provided [RCV002957251] Chr19:11447525..11447526 [GRCh38]
Chr19:11558340..11558341 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1009G>A (p.Val337Met) single nucleotide variant not provided [RCV002914783] Chr19:11447598 [GRCh38]
Chr19:11558413 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1489A>G (p.Met497Val) single nucleotide variant Inborn genetic diseases [RCV002854028]|not provided [RCV003883904] Chr19:11449293 [GRCh38]
Chr19:11560108 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1110G>A (p.Thr370=) single nucleotide variant not provided [RCV002766839] Chr19:11447773 [GRCh38]
Chr19:11558588 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1176G>A (p.Lys392=) single nucleotide variant not provided [RCV002596878] Chr19:11448271 [GRCh38]
Chr19:11559086 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.951_1001dup (p.Glu333_Asp334insGluGluGluGluGluGluGluGluGluAlaGluGluGluGluGluGluGlu) duplication not provided [RCV003084451] Chr19:11447525..11447526 [GRCh38]
Chr19:11558340..11558341 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.840C>T (p.Tyr280=) single nucleotide variant not provided [RCV003023571] Chr19:11447151 [GRCh38]
Chr19:11557966 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1462-8A>G single nucleotide variant not provided [RCV002917729] Chr19:11449258 [GRCh38]
Chr19:11560073 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.80-11G>A single nucleotide variant not provided [RCV002593503] Chr19:11436378 [GRCh38]
Chr19:11547199 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.312C>T (p.Asp104=) single nucleotide variant not provided [RCV002630381] Chr19:11438086 [GRCh38]
Chr19:11548907 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.977_988del (p.Ala326_Glu329del) deletion not provided [RCV002576533] Chr19:11447556..11447567 [GRCh38]
Chr19:11558371..11558382 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.941A>G (p.Glu314Gly) single nucleotide variant not provided [RCV002600487] Chr19:11447530 [GRCh38]
Chr19:11558345 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.850-18G>A single nucleotide variant not provided [RCV002597514] Chr19:11447421 [GRCh38]
Chr19:11558236 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1170G>A (p.Ser390=) single nucleotide variant not provided [RCV002599725] Chr19:11448265 [GRCh38]
Chr19:11559080 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1516C>T (p.Arg506Cys) single nucleotide variant Inborn genetic diseases [RCV002718236] Chr19:11449320 [GRCh38]
Chr19:11560135 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1409T>C (p.Met470Thr) single nucleotide variant Inborn genetic diseases [RCV002919876] Chr19:11449123 [GRCh38]
Chr19:11559938 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1323G>A (p.Ser441=) single nucleotide variant not provided [RCV002715232] Chr19:11448950 [GRCh38]
Chr19:11559765 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1427C>G (p.Thr476Arg) single nucleotide variant not provided [RCV002856384] Chr19:11449141 [GRCh38]
Chr19:11559956 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.850-14_850-13inv inversion not provided [RCV002601802] Chr19:11447425..11447426 [GRCh38]
Chr19:11558240..11558241 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1480A>G (p.Lys494Glu) single nucleotide variant Inborn genetic diseases [RCV002831235] Chr19:11449284 [GRCh38]
Chr19:11560099 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.197-8C>T single nucleotide variant not provided [RCV002721337] Chr19:11437868 [GRCh38]
Chr19:11548689 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1569G>A (p.Pro523=) single nucleotide variant PRKCSH-related condition [RCV003936596]|not provided [RCV002603647] Chr19:11449373 [GRCh38]
Chr19:11560188 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.762+9G>A single nucleotide variant not provided [RCV002603269] Chr19:11446359 [GRCh38]
Chr19:11557174 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1197-17T>C single nucleotide variant not provided [RCV002654298] Chr19:11448523 [GRCh38]
Chr19:11559338 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1361+16T>G single nucleotide variant not provided [RCV002605189] Chr19:11449004 [GRCh38]
Chr19:11559819 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1462-16G>A single nucleotide variant not provided [RCV002588930] Chr19:11449250 [GRCh38]
Chr19:11560065 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1287-13C>T single nucleotide variant not provided [RCV002586104] Chr19:11448901 [GRCh38]
Chr19:11559716 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1127-4C>G single nucleotide variant not provided [RCV003073297] Chr19:11448218 [GRCh38]
Chr19:11559033 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.1462-9del deletion not provided [RCV002586339] Chr19:11449255 [GRCh38]
Chr19:11560070 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.935C>G (p.Thr312Arg) single nucleotide variant Inborn genetic diseases [RCV003072684]|not provided [RCV003072685] Chr19:11447524 [GRCh38]
Chr19:11558339 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001289104.2(PRKCSH):c.1386C>T (p.Pro462=) single nucleotide variant PRKCSH-related condition [RCV003926738]|not provided [RCV002612215] Chr19:11449100 [GRCh38]
Chr19:11559915 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.335G>A (p.Cys112Tyr) single nucleotide variant Inborn genetic diseases [RCV003214509] Chr19:11438109 [GRCh38]
Chr19:11548930 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.814G>A (p.Val272Ile) single nucleotide variant Inborn genetic diseases [RCV003217422] Chr19:11447125 [GRCh38]
Chr19:11557940 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.190G>A (p.Glu64Lys) single nucleotide variant Inborn genetic diseases [RCV003205828] Chr19:11436499 [GRCh38]
Chr19:11547320 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1263G>C (p.Gln421His) single nucleotide variant not provided [RCV003229176] Chr19:11448606 [GRCh38]
Chr19:11559421 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.805_845del (p.Tyr269fs) deletion Polycystic liver disease 1 [RCV003319950] Chr19:11447114..11447154 [GRCh38]
Chr19:11557929..11557969 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001289104.2(PRKCSH):c.284G>A (p.Gly95Asp) single nucleotide variant Inborn genetic diseases [RCV003366800] Chr19:11437963 [GRCh38]
Chr19:11548784 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.866T>G (p.Leu289Arg) single nucleotide variant Inborn genetic diseases [RCV003364070] Chr19:11447455 [GRCh38]
Chr19:11558270 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.388A>C (p.Met130Leu) single nucleotide variant not provided [RCV003569845] Chr19:11441277 [GRCh38]
Chr19:11552092 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1462-3dup duplication not provided [RCV003571237] Chr19:11449259..11449260 [GRCh38]
Chr19:11560074..11560075 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.1467_1477del (p.Leu490fs) deletion not provided [RCV003571243] Chr19:11449266..11449276 [GRCh38]
Chr19:11560081..11560091 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.1285G>T (p.Glu429Ter) single nucleotide variant not provided [RCV003480505] Chr19:11448628 [GRCh38]
Chr19:11559443 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_001289104.2(PRKCSH):c.936A>G (p.Thr312=) single nucleotide variant not provided [RCV003406854] Chr19:11447525 [GRCh38]
Chr19:11558340 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1461+2T>C single nucleotide variant not provided [RCV003694723] Chr19:11449177 [GRCh38]
Chr19:11559992 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1126+14G>A single nucleotide variant not provided [RCV003881000] Chr19:11447803 [GRCh38]
Chr19:11558618 [GRCh37]
Chr19:19p13.2		 benign
NM_001289104.2(PRKCSH):c.1061C>T (p.Pro354Leu) single nucleotide variant not provided [RCV003545384] Chr19:11447724 [GRCh38]
Chr19:11558539 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.683+19G>T single nucleotide variant not provided [RCV003830373] Chr19:11445492 [GRCh38]
Chr19:11556307 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.504T>C (p.Ser168=) single nucleotide variant not provided [RCV003572504] Chr19:11442421 [GRCh38]
Chr19:11553236 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.469-16C>G single nucleotide variant not provided [RCV003713481] Chr19:11442370 [GRCh38]
Chr19:11553185 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1123G>A (p.Asp375Asn) single nucleotide variant not provided [RCV003575827] Chr19:11447786 [GRCh38]
Chr19:11558601 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.219C>T (p.Gly73=) single nucleotide variant not provided [RCV003850553] Chr19:11437898 [GRCh38]
Chr19:11548719 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1166G>A (p.Arg389Gln) single nucleotide variant not provided [RCV003836080] Chr19:11448261 [GRCh38]
Chr19:11559076 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1196+20G>C single nucleotide variant not provided [RCV003810898] Chr19:11448311 [GRCh38]
Chr19:11559126 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1545G>A (p.Thr515=) single nucleotide variant PRKCSH-related condition [RCV003919349]|not provided [RCV003726903] Chr19:11449349 [GRCh38]
Chr19:11560164 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.351-4G>A single nucleotide variant not provided [RCV003726796] Chr19:11441236 [GRCh38]
Chr19:11552051 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.372A>G (p.Arg124=) single nucleotide variant not provided [RCV003664966] Chr19:11441261 [GRCh38]
Chr19:11552076 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.813C>T (p.Arg271=) single nucleotide variant not provided [RCV003717089] Chr19:11447124 [GRCh38]
Chr19:11557939 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.350+4C>T single nucleotide variant not provided [RCV003559826] Chr19:11438128 [GRCh38]
Chr19:11548949 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.15G>A (p.Leu5=) single nucleotide variant not provided [RCV003856112] Chr19:11436132 [GRCh38]
Chr19:11546953 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1197-20C>T single nucleotide variant not provided [RCV003811162] Chr19:11448520 [GRCh38]
Chr19:11559335 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.124G>A (p.Gly42Ser) single nucleotide variant not provided [RCV003811585] Chr19:11436433 [GRCh38]
Chr19:11547254 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1407C>T (p.Ala469=) single nucleotide variant not provided [RCV003698276] Chr19:11449121 [GRCh38]
Chr19:11559936 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.936_938del (p.Glu325del) deletion not provided [RCV003559128] Chr19:11447525..11447527 [GRCh38]
Chr19:11558340..11558342 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.249G>T (p.Lys83Asn) single nucleotide variant not provided [RCV003850714] Chr19:11437928 [GRCh38]
Chr19:11548749 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1032G>A (p.Glu344=) single nucleotide variant not provided [RCV003681967] Chr19:11447695 [GRCh38]
Chr19:11558510 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1098CGA[1] (p.Asp367del) microsatellite not provided [RCV003551251] Chr19:11447760..11447762 [GRCh38]
Chr19:11558575..11558577 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1232C>T (p.Pro411Leu) single nucleotide variant not provided [RCV003709069] Chr19:11448575 [GRCh38]
Chr19:11559390 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.288T>C (p.Val96=) single nucleotide variant not provided [RCV003708236] Chr19:11437967 [GRCh38]
Chr19:11548788 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.325G>A (p.Gly109Ser) single nucleotide variant not provided [RCV003867331] Chr19:11438099 [GRCh38]
Chr19:11548920 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1169C>T (p.Ser390Leu) single nucleotide variant not provided [RCV003562685] Chr19:11448264 [GRCh38]
Chr19:11559079 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1196+19dup duplication not provided [RCV003684632] Chr19:11448309..11448310 [GRCh38]
Chr19:11559124..11559125 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1083C>G (p.Asp361Glu) single nucleotide variant not provided [RCV003683988] Chr19:11447746 [GRCh38]
Chr19:11558561 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 copy number loss not specified [RCV003986120] Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.689C>T (p.Ser230Leu) single nucleotide variant not provided [RCV003723033] Chr19:11446277 [GRCh38]
Chr19:11557092 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1235A>G (p.Asn412Ser) single nucleotide variant not provided [RCV003821615] Chr19:11448578 [GRCh38]
Chr19:11559393 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.1286+4C>T single nucleotide variant not provided [RCV003556869] Chr19:11448633 [GRCh38]
Chr19:11559448 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.261C>T (p.Ile87=) single nucleotide variant not provided [RCV003820508] Chr19:11437940 [GRCh38]
Chr19:11548761 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.1022A>G (p.Gln341Arg) single nucleotide variant not provided [RCV003859060] Chr19:11447611 [GRCh38]
Chr19:11558426 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.642G>A (p.Ala214=) single nucleotide variant not provided [RCV003563255] Chr19:11445432 [GRCh38]
Chr19:11556247 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.36C>T (p.Cys12=) single nucleotide variant not provided [RCV003734318] Chr19:11436153 [GRCh38]
Chr19:11546974 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.481G>T (p.Glu161Ter) single nucleotide variant not provided [RCV003564114] Chr19:11442398 [GRCh38]
Chr19:11553213 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001289104.2(PRKCSH):c.237C>T (p.Asn79=) single nucleotide variant not provided [RCV003675135] Chr19:11437916 [GRCh38]
Chr19:11548737 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.-78+74G>A single nucleotide variant ODAD3-related condition [RCV003924021] Chr19:11435780 [GRCh38]
Chr19:11546601 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001289104.2(PRKCSH):c.821_832del (p.Ala274_Arg277del) deletion not provided [RCV003885065] Chr19:11447129..11447140 [GRCh38]
Chr19:11557944..11557955 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001289104.2(PRKCSH):c.156C>T (p.Asn52=) single nucleotide variant PRKCSH-related condition [RCV003921985] Chr19:11436465 [GRCh38]
Chr19:11547286 [GRCh37]
Chr19:19p13.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7924
Count of miRNA genes:1099
Interacting mature miRNAs:1441
Transcripts:ENST00000252455, ENST00000412601, ENST00000585325, ENST00000585540, ENST00000586486, ENST00000587290, ENST00000587327, ENST00000587509, ENST00000588269, ENST00000589126, ENST00000589838, ENST00000589990, ENST00000590098, ENST00000591462, ENST00000591510, ENST00000591946, ENST00000592435, ENST00000592445, ENST00000592741, ENST00000593053, ENST00000593101, ENST00000593104
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
RH79661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371911,561,530 - 11,561,722UniSTSGRCh37
Build 361911,422,530 - 11,422,722RGDNCBI36
Celera1911,456,268 - 11,456,460RGD
Cytogenetic Map19p13.2UniSTS
HuRef1911,136,521 - 11,136,713UniSTS


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 adipose tissue appendage entire extraembryonic component
High 17
Medium 2432 2956 1723 622 1941 464 4355 2168 3706 418 1431 1606 171 1204 2788 4
Low 28 7 25 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF144075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF984334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG323695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI254784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP242217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF618983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB024838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY029996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY051935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z36798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000585325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,446,316 - 11,448,018 (+)Ensembl
RefSeq Acc Id: ENST00000585540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,447,121 - 11,448,405 (+)Ensembl
RefSeq Acc Id: ENST00000586486   ⟹   ENSP00000465948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,447,565 - 11,450,968 (+)Ensembl
RefSeq Acc Id: ENST00000587290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,447,934 - 11,449,422 (+)Ensembl
RefSeq Acc Id: ENST00000587327   ⟹   ENSP00000466012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,745 - 11,450,867 (+)Ensembl
RefSeq Acc Id: ENST00000587509   ⟹   ENSP00000465821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,627 - 11,441,311 (+)Ensembl
RefSeq Acc Id: ENST00000588269   ⟹   ENSP00000465889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,624 - 11,437,884 (+)Ensembl
RefSeq Acc Id: ENST00000589126   ⟹   ENSP00000467566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,619 - 11,442,422 (+)Ensembl
RefSeq Acc Id: ENST00000589838   ⟹   ENSP00000465461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,436,118 - 11,450,940 (+)Ensembl
RefSeq Acc Id: ENST00000589990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,442,407 - 11,445,846 (+)Ensembl
RefSeq Acc Id: ENST00000590098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,447,998 - 11,449,163 (+)Ensembl
RefSeq Acc Id: ENST00000591462   ⟹   ENSP00000465489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,635 - 11,450,965 (+)Ensembl
RefSeq Acc Id: ENST00000591510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,449,779 - 11,450,967 (+)Ensembl
RefSeq Acc Id: ENST00000591946   ⟹   ENSP00000464835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,401 - 11,436,495 (+)Ensembl
RefSeq Acc Id: ENST00000592435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,448,537 - 11,449,268 (+)Ensembl
RefSeq Acc Id: ENST00000592445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,447,065 - 11,447,940 (+)Ensembl
RefSeq Acc Id: ENST00000592741   ⟹   ENSP00000466134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,635 - 11,450,968 (+)Ensembl
RefSeq Acc Id: ENST00000593053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,632 - 11,441,252 (+)Ensembl
RefSeq Acc Id: ENST00000593101   ⟹   ENSP00000465047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,740 - 11,441,321 (+)Ensembl
RefSeq Acc Id: ENST00000593104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,630 - 11,441,105 (+)Ensembl
RefSeq Acc Id: ENST00000676823   ⟹   ENSP00000503072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,284 - 11,442,432 (+)Ensembl
RefSeq Acc Id: ENST00000677123   ⟹   ENSP00000503163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1911,435,635 - 11,450,968 (+)Ensembl
RefSeq Acc Id: NM_001001329   ⟹   NP_001001329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,435,635 - 11,450,968 (+)NCBI
GRCh371911,546,111 - 11,561,783 (+)NCBI
Build 361911,407,269 - 11,422,783 (+)NCBI Archive
HuRef1911,121,274 - 11,136,774 (+)NCBI
CHM1_11911,546,100 - 11,561,813 (+)NCBI
T2T-CHM13v2.01911,563,157 - 11,578,487 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289102   ⟹   NP_001276031
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,436,073 - 11,450,968 (+)NCBI
HuRef1911,121,274 - 11,136,774 (+)NCBI
CHM1_11911,546,583 - 11,561,813 (+)NCBI
T2T-CHM13v2.01911,563,595 - 11,578,487 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289103   ⟹   NP_001276032
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,435,635 - 11,450,968 (+)NCBI
HuRef1911,121,274 - 11,136,774 (+)NCBI
CHM1_11911,546,100 - 11,561,813 (+)NCBI
T2T-CHM13v2.01911,563,157 - 11,578,487 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289104   ⟹   NP_001276033
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,435,635 - 11,450,968 (+)NCBI
HuRef1911,121,274 - 11,136,774 (+)NCBI
CHM1_11911,546,100 - 11,561,813 (+)NCBI
T2T-CHM13v2.01911,563,157 - 11,578,487 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379608   ⟹   NP_001366537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,435,635 - 11,450,968 (+)NCBI
T2T-CHM13v2.01911,563,157 - 11,578,487 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379609   ⟹   NP_001366538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,435,635 - 11,450,968 (+)NCBI
T2T-CHM13v2.01911,563,157 - 11,578,487 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002743   ⟹   NP_002734
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,435,645 - 11,450,968 (+)NCBI
GRCh371911,546,111 - 11,561,783 (+)NCBI
Build 361911,407,269 - 11,422,783 (+)NCBI Archive
HuRef1911,121,274 - 11,136,774 (+)NCBI
CHM1_11911,546,488 - 11,561,813 (+)NCBI
T2T-CHM13v2.01911,563,167 - 11,578,487 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001001329 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276031 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276032 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276033 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366537 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366538 (Get FASTA)   NCBI Sequence Viewer  
  NP_002734 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52493 (Get FASTA)   NCBI Sequence Viewer  
  AAA98668 (Get FASTA)   NCBI Sequence Viewer  
  AAF66686 (Get FASTA)   NCBI Sequence Viewer  
  AAH13586 (Get FASTA)   NCBI Sequence Viewer  
  AAH15154 (Get FASTA)   NCBI Sequence Viewer  
  AAI28413 (Get FASTA)   NCBI Sequence Viewer  
  AAP88860 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33736 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33737 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33738 (Get FASTA)   NCBI Sequence Viewer  
  BAF83122 (Get FASTA)   NCBI Sequence Viewer  
  BAG58917 (Get FASTA)   NCBI Sequence Viewer  
  EAW84215 (Get FASTA)   NCBI Sequence Viewer  
  EAW84216 (Get FASTA)   NCBI Sequence Viewer  
  EAW84217 (Get FASTA)   NCBI Sequence Viewer  
  EAW84218 (Get FASTA)   NCBI Sequence Viewer  
  EAW84219 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000464835.1
  ENSP00000465047.1
  ENSP00000465461
  ENSP00000465461.1
  ENSP00000465489
  ENSP00000465489.1
  ENSP00000465821.1
  ENSP00000465889.1
  ENSP00000465948.1
  ENSP00000466012
  ENSP00000466012.1
  ENSP00000466134
  ENSP00000466134.1
  ENSP00000467566.1
  ENSP00000503072.1
  ENSP00000503163
  ENSP00000503163.1
GenBank Protein P14314 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001001329   ⟸   NM_001001329
- Peptide Label: isoform 2 precursor
- UniProtKB: B4DJQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002734   ⟸   NM_002743
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96D06 (UniProtKB/Swiss-Prot),   Q96BU9 (UniProtKB/Swiss-Prot),   A8K318 (UniProtKB/Swiss-Prot),   Q9P0W9 (UniProtKB/Swiss-Prot),   P14314 (UniProtKB/Swiss-Prot),   B4DJQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276032   ⟸   NM_001289103
- Peptide Label: isoform 3 precursor
- UniProtKB: B4DJQ5 (UniProtKB/TrEMBL),   K7ELL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276033   ⟸   NM_001289104
- Peptide Label: isoform 3 precursor
- UniProtKB: B4DJQ5 (UniProtKB/TrEMBL),   K7ELL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276031   ⟸   NM_001289102
- Peptide Label: isoform 2 precursor
- UniProtKB: B4DJQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001366538   ⟸   NM_001379609
- Peptide Label: isoform 2 precursor
- UniProtKB: B4DJQ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001366537   ⟸   NM_001379608
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96D06 (UniProtKB/Swiss-Prot),   Q96BU9 (UniProtKB/Swiss-Prot),   P14314 (UniProtKB/Swiss-Prot),   A8K318 (UniProtKB/Swiss-Prot),   Q9P0W9 (UniProtKB/Swiss-Prot),   B4DJQ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000465948   ⟸   ENST00000586486
RefSeq Acc Id: ENSP00000465821   ⟸   ENST00000587509
RefSeq Acc Id: ENSP00000466012   ⟸   ENST00000587327
RefSeq Acc Id: ENSP00000465889   ⟸   ENST00000588269
RefSeq Acc Id: ENSP00000467566   ⟸   ENST00000589126
RefSeq Acc Id: ENSP00000465461   ⟸   ENST00000589838
RefSeq Acc Id: ENSP00000465489   ⟸   ENST00000591462
RefSeq Acc Id: ENSP00000464835   ⟸   ENST00000591946
RefSeq Acc Id: ENSP00000466134   ⟸   ENST00000592741
RefSeq Acc Id: ENSP00000465047   ⟸   ENST00000593101
RefSeq Acc Id: ENSP00000503072   ⟸   ENST00000676823
RefSeq Acc Id: ENSP00000503163   ⟸   ENST00000677123
Protein Domains
EF-hand   Glucosidase II beta subunit N-terminal   LDL-receptor class A   MRH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P14314-F1-model_v2 AlphaFold P14314 1-528 view protein structure

Promoters
RGD ID:6795254
Promoter ID:HG_KWN:28921
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000252455,   NM_001001329,   NM_145045,   UC002MRV.1,   UC010DXZ.1,   UC010DYA.1,   UC010DYB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361911,407,236 - 11,407,736 (-)MPROMDB
RGD ID:6851716
Promoter ID:EP73660
Type:multiple initiation site
Name:HS_PRKCSH
Description:Protein kinase C substrate 80K-H.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361911,407,456 - 11,407,516EPD
RGD ID:7238603
Promoter ID:EPDNEW_H25048
Type:initiation region
Name:PRKCSH_4
Description:protein kinase C substrate 80K-H
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25049  EPDNEW_H25050  EPDNEW_H25051  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,435,288 - 11,435,348EPDNEW
RGD ID:7238605
Promoter ID:EPDNEW_H25049
Type:initiation region
Name:PRKCSH_1
Description:protein kinase C substrate 80K-H
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25048  EPDNEW_H25050  EPDNEW_H25051  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,435,635 - 11,435,695EPDNEW
RGD ID:7238607
Promoter ID:EPDNEW_H25050
Type:initiation region
Name:PRKCSH_3
Description:protein kinase C substrate 80K-H
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25048  EPDNEW_H25049  EPDNEW_H25051  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,436,021 - 11,436,081EPDNEW
RGD ID:7238609
Promoter ID:EPDNEW_H25051
Type:initiation region
Name:PRKCSH_2
Description:protein kinase C substrate 80K-H
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25048  EPDNEW_H25049  EPDNEW_H25050  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381911,447,555 - 11,447,615EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9411 AgrOrtholog
COSMIC PRKCSH COSMIC
Ensembl Genes ENSG00000130175 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000586486.1 UniProtKB/TrEMBL
  ENST00000587327 ENTREZGENE
  ENST00000587327.5 UniProtKB/Swiss-Prot
  ENST00000587509.5 UniProtKB/TrEMBL
  ENST00000588269.1 UniProtKB/TrEMBL
  ENST00000589126.5 UniProtKB/TrEMBL
  ENST00000589838 ENTREZGENE
  ENST00000589838.5 UniProtKB/Swiss-Prot
  ENST00000591462 ENTREZGENE
  ENST00000591462.6 UniProtKB/Swiss-Prot
  ENST00000591946.5 UniProtKB/TrEMBL
  ENST00000592741 ENTREZGENE
  ENST00000592741.5 UniProtKB/TrEMBL
  ENST00000593101.5 UniProtKB/TrEMBL
  ENST00000676823.1 UniProtKB/TrEMBL
  ENST00000677123 ENTREZGENE
  ENST00000677123.1 UniProtKB/TrEMBL
Gene3D-CATH 2.70.130.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130175 GTEx
HGNC ID HGNC:9411 ENTREZGENE
Human Proteome Map PRKCSH Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gtb1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Man6P_isomerase_rcpt-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MRH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRKCSH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRKCSH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5589 UniProtKB/Swiss-Prot
NCBI Gene 5589 ENTREZGENE
OMIM 177060 OMIM
PANTHER GLUCOSIDASE 2 SUBUNIT BETA UniProtKB/Swiss-Prot
  PTHR12630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12630:SF1 UniProtKB/TrEMBL
Pfam EF-hand_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRKCSH-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRKCSH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33774 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ER_TARGET UniProtKB/Swiss-Prot
  MRH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50911 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGP4_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4A0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4D8_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4W7_HUMAN UniProtKB/TrEMBL
  A0A7I2V2T6_HUMAN UniProtKB/TrEMBL
  A2VCQ4_HUMAN UniProtKB/TrEMBL
  A8K318 ENTREZGENE
  B4DJQ5 ENTREZGENE, UniProtKB/TrEMBL
  GLU2B_HUMAN UniProtKB/Swiss-Prot
  K7EIP3_HUMAN UniProtKB/TrEMBL
  K7EJ70_HUMAN UniProtKB/TrEMBL
  K7EKX1_HUMAN UniProtKB/TrEMBL
  K7EL27_HUMAN UniProtKB/TrEMBL
  K7ELL7 ENTREZGENE, UniProtKB/TrEMBL
  K7EPW7_HUMAN UniProtKB/TrEMBL
  P14314 ENTREZGENE
  Q96BU9 ENTREZGENE
  Q96D06 ENTREZGENE
  Q9P0W9 ENTREZGENE
UniProt Secondary A8K318 UniProtKB/Swiss-Prot
  Q96BU9 UniProtKB/Swiss-Prot
  Q96D06 UniProtKB/Swiss-Prot
  Q9P0W9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-12-25 PRKCSH  PRKCSH beta subunit of glucosidase II  PRKCSH  protein kinase C substrate 80K-H  Symbol and/or name change 19259463 PROVISIONAL
2016-03-24 PRKCSH  protein kinase C substrate 80K-H  PCLD  polycystic liver disease  Data merged from RGD:1351500 737654 PROVISIONAL