PCDHA11 (protocadherin alpha 11) - Rat Genome Database

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Gene: PCDHA11 (protocadherin alpha 11) Homo sapiens
Analyze
Symbol: PCDHA11
Name: protocadherin alpha 11
RGD ID: 1349379
HGNC Page HGNC:8665
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in membrane. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CNR7; CNRN7; CNRS7; CRNR7; KIAA0345-like 3; ortholog of mouse CNR7; PCDH-alpha-11; PCDH-ALPHA11; protocadherin alpha-11
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385140,867,513 - 141,012,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5140,868,183 - 141,012,347 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,247,098 - 140,391,932 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,228,015 - 140,372,113 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,228,014 - 140,231,305NCBI
Celera5136,324,642 - 136,468,708 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,392,570 - 135,536,628 (+)NCBIHuRef
CHM1_15139,681,023 - 139,825,092 (+)NCBICHM1_1
T2T-CHM13v2.05141,392,838 - 141,537,634 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IEA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10380929   PMID:10662547   PMID:10716726   PMID:10817752   PMID:10835267   PMID:11230163   PMID:12477932   PMID:15372022   PMID:16344560   PMID:17474147   PMID:21873635   PMID:22589738  
PMID:28514442   PMID:28625976   PMID:32552912   PMID:33961781  


Genomics

Comparative Map Data
PCDHA11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385140,867,513 - 141,012,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5140,868,183 - 141,012,347 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,247,098 - 140,391,932 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,228,015 - 140,372,113 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,228,014 - 140,231,305NCBI
Celera5136,324,642 - 136,468,708 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,392,570 - 135,536,628 (+)NCBIHuRef
CHM1_15139,681,023 - 139,825,092 (+)NCBICHM1_1
T2T-CHM13v2.05141,392,838 - 141,537,634 (+)NCBIT2T-CHM13v2.0
Pcdha11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,143,911 - 37,320,710 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,143,765 - 37,320,710 (+)EnsemblGRCm39 Ensembl
GRCm381837,010,858 - 37,187,657 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1837,010,712 - 37,187,657 (+)EnsemblGRCm38mm10GRCm38
MGSCv371837,170,512 - 37,347,311 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,136,832 - 37,313,631 (+)NCBIMGSCv36mm8
Celera1837,457,628 - 37,460,021 (+)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1819.46NCBI
Pcdha11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2 Ensembl1828,581,225 - 28,846,211 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01830,017,918 - 30,215,896 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1829,987,206 - 30,215,897 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01829,715,168 - 29,924,443 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41829,728,603 - 29,928,030 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1828,356,751 - 28,552,754 (+)NCBICelera
Cytogenetic Map18p11NCBI
PCDHA11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1 Ensembl5142,348,847 - 142,366,618 (+)Ensemblpanpan1.1panPan2
PCDHA11
(Canis lupus familiaris - dog)		 No map positions available.
PCDHA11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2142,538,379 - 142,541,234 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12142,521,690 - 142,687,684 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22148,530,876 - 148,639,936 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in PCDHA11
379 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_018904.2(PCDHA13):c.1372C>T (p.Pro458Ser) single nucleotide variant Malignant melanoma [RCV000061138] Chr5:140883640 [GRCh38]
Chr5:140263225 [GRCh37]
Chr5:140243409 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.3(PCDHAC1):c.1559G>C (p.Gly520Ala) single nucleotide variant Malignant melanoma [RCV000061139] Chr5:140928451 [GRCh38]
Chr5:140308036 [GRCh37]
Chr5:140288220 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.3(PCDHAC1):c.1672C>T (p.Pro558Ser) single nucleotide variant Malignant melanoma [RCV000061140] Chr5:140928564 [GRCh38]
Chr5:140308149 [GRCh37]
Chr5:140288333 [NCBI36]
Chr5:5q31.3		 not provided
NM_018899.5(PCDHAC2):c.1957G>A (p.Gly653Ser) single nucleotide variant Malignant melanoma [RCV000061141] Chr5:140968723 [GRCh38]
Chr5:140348308 [GRCh37]
Chr5:140328492 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.3(PCDHAC1):c.2742G>A (p.Gln914=) single nucleotide variant Malignant melanoma [RCV000061142] Chr5:141009787 [GRCh38]
Chr5:140389372 [GRCh37]
Chr5:140369556 [NCBI36]
Chr5:5q31.3		 not provided
NM_018903.3(PCDHA12):c.955C>T (p.Gln319Ter) single nucleotide variant Malignant melanoma [RCV000066685] Chr5:140876427 [GRCh38]
Chr5:140256012 [GRCh37]
Chr5:140236196 [NCBI36]
Chr5:5q31.3		 not provided
NM_018903.3(PCDHA12):c.2083G>A (p.Asp695Asn) single nucleotide variant Malignant melanoma [RCV000066686] Chr5:140877555 [GRCh38]
Chr5:140257140 [GRCh37]
Chr5:140237324 [NCBI36]
Chr5:5q31.3		 not provided
NM_018904.2(PCDHA13):c.693G>A (p.Thr231=) single nucleotide variant Malignant melanoma [RCV000066687] Chr5:140882961 [GRCh38]
Chr5:140262546 [GRCh37]
Chr5:140242730 [NCBI36]
Chr5:5q31.3		 not provided
NM_018904.2(PCDHA13):c.815G>A (p.Gly272Asp) single nucleotide variant Malignant melanoma [RCV000066688] Chr5:140883083 [GRCh38]
Chr5:140262668 [GRCh37]
Chr5:140242852 [NCBI36]
Chr5:5q31.3		 not provided
NM_018904.2(PCDHA13):c.977G>A (p.Gly326Glu) single nucleotide variant Malignant melanoma [RCV000066689] Chr5:140883245 [GRCh38]
Chr5:140262830 [GRCh37]
Chr5:140243014 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.3(PCDHAC1):c.1688G>A (p.Gly563Asp) single nucleotide variant Malignant melanoma [RCV000066691] Chr5:140928580 [GRCh38]
Chr5:140308165 [GRCh37]
Chr5:140288349 [NCBI36]
Chr5:5q31.3		 not provided
NM_018899.5(PCDHAC2):c.589C>T (p.Leu197Phe) single nucleotide variant Malignant melanoma [RCV000066692] Chr5:140967355 [GRCh38]
Chr5:140346940 [GRCh37]
Chr5:140327124 [NCBI36]
Chr5:5q31.3		 not provided
NM_018899.5(PCDHAC2):c.703C>T (p.Pro235Ser) single nucleotide variant Malignant melanoma [RCV000066693] Chr5:140967469 [GRCh38]
Chr5:140347054 [GRCh37]
Chr5:140327238 [NCBI36]
Chr5:5q31.3		 not provided
NM_018899.5(PCDHAC2):c.2248G>A (p.Glu750Lys) single nucleotide variant Malignant melanoma [RCV000066694] Chr5:140969014 [GRCh38]
Chr5:140348599 [GRCh37]
Chr5:140328783 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.3(PCDHAC1):c.1359C>T (p.Phe453=) single nucleotide variant Malignant melanoma [RCV000066690] Chr5:140928251 [GRCh38]
Chr5:140307836 [GRCh37]
Chr5:140288020 [NCBI36]
Chr5:5q31.3		 not provided
NM_018898.5(PCDHAC1):c.2396G>A (p.Arg799Gln) single nucleotide variant not provided [RCV000122558] Chr5:140929288 [GRCh38]
Chr5:140308873 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1 copy number loss See cases [RCV000136949] Chr5:140963199..142322798 [GRCh38]
Chr5:140453735..141702363 [GRCh37]
Chr5:140322968..141682547 [NCBI36]
Chr5:5q31.3		 uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3		 uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His) single nucleotide variant Hirschsprung disease, susceptibility to, 1 [RCV000508600]|not provided [RCV004692884] Chr5:140978974 [GRCh38]
Chr5:140358559 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_018903.4(PCDHA12):c.210A>C (p.Arg70Ser) single nucleotide variant not specified [RCV004312475] Chr5:140875682 [GRCh38]
Chr5:140255267 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1337C>G (p.Ala446Gly) single nucleotide variant not specified [RCV004298132] Chr5:140883605 [GRCh38]
Chr5:140263190 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1553A>T (p.Tyr518Phe) single nucleotide variant not specified [RCV004312482] Chr5:140883821 [GRCh38]
Chr5:140263406 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.344A>C (p.Gln115Pro) single nucleotide variant not specified [RCV004318687] Chr5:140875816 [GRCh38]
Chr5:140255401 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1372C>A (p.Pro458Thr) single nucleotide variant not specified [RCV004330007] Chr5:140876844 [GRCh38]
Chr5:140256429 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1613A>G (p.Asp538Gly) single nucleotide variant not specified [RCV004313469] Chr5:140870716 [GRCh38]
Chr5:140250301 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.804T>A (p.Asp268Glu) single nucleotide variant not specified [RCV004319204] Chr5:140883072 [GRCh38]
Chr5:140262657 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2048C>G (p.Ser683Trp) single nucleotide variant not specified [RCV004320427] Chr5:140884316 [GRCh38]
Chr5:140263901 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1208T>A (p.Leu403Gln) single nucleotide variant not specified [RCV004319220] Chr5:140928100 [GRCh38]
Chr5:140307685 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1677C>G (p.Asn559Lys) single nucleotide variant not specified [RCV004298928] Chr5:140877149 [GRCh38]
Chr5:140256734 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.968A>G (p.Asp323Gly) single nucleotide variant not specified [RCV004331738] Chr5:140870071 [GRCh38]
Chr5:140249656 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1466T>G (p.Leu489Arg) single nucleotide variant not specified [RCV004312470] Chr5:140876938 [GRCh38]
Chr5:140256523 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1505A>G (p.His502Arg) single nucleotide variant not specified [RCV004312472] Chr5:140876977 [GRCh38]
Chr5:140256562 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.1255T>G (p.Ser419Ala) single nucleotide variant not specified [RCV004333811] Chr5:140883523 [GRCh38]
Chr5:140263108 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.196G>A (p.Val66Met) single nucleotide variant not specified [RCV004312473] Chr5:140875668 [GRCh38]
Chr5:140255253 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.208A>G (p.Arg70Gly) single nucleotide variant not specified [RCV004312474] Chr5:140875680 [GRCh38]
Chr5:140255265 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.1466T>G (p.Leu489Arg) single nucleotide variant not specified [RCV004312478] Chr5:140883734 [GRCh38]
Chr5:140263319 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.128C>A (p.Thr43Asn) single nucleotide variant not specified [RCV004294125] Chr5:140882396 [GRCh38]
Chr5:140261981 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1459G>A (p.Val487Ile) single nucleotide variant not specified [RCV004299002] Chr5:140928351 [GRCh38]
Chr5:140307936 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.982C>T (p.Pro328Ser) single nucleotide variant not specified [RCV004333407] Chr5:140870085 [GRCh38]
Chr5:140249670 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 copy number loss not provided [RCV000682600] Chr5:139147238..141540491 [GRCh37]
Chr5:5q31.2-31.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q31.3(chr5:140181892-140303139)x3 copy number gain not provided [RCV000745213] Chr5:140181892..140303139 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140228262-140264271)x3 copy number gain not provided [RCV000745220] Chr5:140228262..140264271 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140229435-140261235)x3 copy number gain not provided [RCV000745221] Chr5:140229435..140261235 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140244335-140282431)x1 copy number loss not provided [RCV000745222] Chr5:140244335..140282431 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140266429-140298815)x0 copy number loss not provided [RCV000745223] Chr5:140266429..140298815 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140101612-140271424)x3 copy number gain not provided [RCV000745200] Chr5:140101612..140271424 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140102539-140347053)x1 copy number loss not provided [RCV000745201] Chr5:140102539..140347053 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140115433-140264271)x3 copy number gain not provided [RCV000745204] Chr5:140115433..140264271 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140115433-140282431)x1 copy number loss not provided [RCV000745205] Chr5:140115433..140282431 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140115433-140344242)x1 copy number loss not provided [RCV000745206] Chr5:140115433..140344242 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140162610-140282431)x1 copy number loss not provided [RCV000745207] Chr5:140162610..140282431 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140166534-140271424)x3 copy number gain not provided [RCV000745208] Chr5:140166534..140271424 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140176243-140264271)x3 copy number gain not provided [RCV000745209] Chr5:140176243..140264271 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140176840-140264271)x3 copy number gain not provided [RCV000745210] Chr5:140176840..140264271 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140176842-140264271)x3 copy number gain not provided [RCV000745211] Chr5:140176842..140264271 [GRCh37]
Chr5:5q31.3		 benign
GRCh37/hg19 5q31.3(chr5:140181359-140264271)x3 copy number gain not provided [RCV000745212] Chr5:140181359..140264271 [GRCh37]
Chr5:5q31.3		 benign
NM_018903.4(PCDHA12):c.703G>A (p.Val235Met) single nucleotide variant not provided [RCV001572857] Chr5:140876175 [GRCh38]
Chr5:140255760 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1503G>C (p.Glu501Asp) single nucleotide variant not specified [RCV004322314] Chr5:140876975 [GRCh38]
Chr5:140256560 [GRCh37]
Chr5:5q31.3		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_018906.3(PCDHA3):c.2670C>A (p.Ile890=) single nucleotide variant not provided [RCV000881803] Chr5:141009754 [GRCh38]
Chr5:140389339 [GRCh37]
Chr5:5q31.3		 likely benign
NM_031857.2(PCDHA9):c.2406C>G (p.Pro802=) single nucleotide variant not provided [RCV000922554] Chr5:140978960 [GRCh38]
Chr5:140358545 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.2492C>G (p.Pro831Arg) single nucleotide variant PCDHA9-related disorder [RCV003913300]|not provided [RCV000950135] Chr5:140982540 [GRCh38]
Chr5:140362125 [GRCh37]
Chr5:5q31.3		 benign|likely benign
NM_018904.3(PCDHA13):c.1231A>G (p.Ser411Gly) single nucleotide variant not specified [RCV004333808] Chr5:140883499 [GRCh38]
Chr5:140263084 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1331G>A (p.Gly444Glu) single nucleotide variant not specified [RCV004333814] Chr5:140883599 [GRCh38]
Chr5:140263184 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1546A>C (p.Lys516Gln) single nucleotide variant not specified [RCV004333015] Chr5:140877018 [GRCh38]
Chr5:140256603 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1601A>G (p.Gln534Arg) single nucleotide variant not specified [RCV004333018] Chr5:140877073 [GRCh38]
Chr5:140256658 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1973C>T (p.Ala658Val) single nucleotide variant not specified [RCV004298093] Chr5:140877445 [GRCh38]
Chr5:140257030 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1574A>G (p.His525Arg) single nucleotide variant not specified [RCV004333017] Chr5:140877046 [GRCh38]
Chr5:140256631 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1439A>G (p.Gln480Arg) single nucleotide variant not specified [RCV004333817] Chr5:140883707 [GRCh38]
Chr5:140263292 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1495G>T (p.Val499Leu) single nucleotide variant not specified [RCV004322313] Chr5:140876967 [GRCh38]
Chr5:140256552 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2613C>T (p.Tyr871=) single nucleotide variant not provided [RCV000879250] Chr5:141009697 [GRCh38]
Chr5:140389282 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.1550A>T (p.Tyr517Phe) single nucleotide variant not specified [RCV004312469] Chr5:140870653 [GRCh38]
Chr5:140250238 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.212A>G (p.His71Arg) single nucleotide variant not specified [RCV004312477] Chr5:140875684 [GRCh38]
Chr5:140255269 [GRCh37]
Chr5:5q31.3		 likely benign
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3		 uncertain significance
NM_018907.4(PCDHA4):c.2499T>A (p.Asp833Glu) single nucleotide variant not provided [RCV001454211] Chr5:140982529 [GRCh38]
Chr5:140362114 [GRCh37]
Chr5:5q31.3		 likely benign
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1 copy number loss PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202] Chr5:139493717..140517454 [GRCh37]
Chr5:5q31.2-31.3		 pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_018904.3(PCDHA13):c.1444G>C (p.Ala482Pro) single nucleotide variant not specified [RCV004306432] Chr5:140883712 [GRCh38]
Chr5:140263297 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1471T>G (p.Ser491Ala) single nucleotide variant not specified [RCV004312471] Chr5:140876943 [GRCh38]
Chr5:140256528 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1471T>G (p.Ser491Ala) single nucleotide variant not specified [RCV004312480] Chr5:140883739 [GRCh38]
Chr5:140263324 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1463T>G (p.Leu488Arg) single nucleotide variant not specified [RCV004312464] Chr5:140870566 [GRCh38]
Chr5:140250151 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1468T>G (p.Ser490Ala) single nucleotide variant not specified [RCV004312465] Chr5:140870571 [GRCh38]
Chr5:140250156 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1543A>C (p.Lys515Gln) single nucleotide variant not specified [RCV004312467] Chr5:140870646 [GRCh38]
Chr5:140250231 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2354G>A (p.Gly785Glu) single nucleotide variant not specified [RCV004302693] Chr5:140871457 [GRCh38]
Chr5:140251042 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1553A>T (p.Tyr518Phe) single nucleotide variant not specified [RCV004333016] Chr5:140877025 [GRCh38]
Chr5:140256610 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1625T>C (p.Val542Ala) single nucleotide variant not specified [RCV004333807] Chr5:140877097 [GRCh38]
Chr5:140256682 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1234G>A (p.Ala412Thr) single nucleotide variant not specified [RCV004333809] Chr5:140883502 [GRCh38]
Chr5:140263087 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1318A>C (p.Ser440Arg) single nucleotide variant not specified [RCV004333813] Chr5:140883586 [GRCh38]
Chr5:140263171 [GRCh37]
Chr5:5q31.3		 uncertain significance
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3 copy number gain not provided [RCV002474614] Chr5:140082762..140773954 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.345G>C (p.Gln115His) single nucleotide variant not specified [RCV004162122] Chr5:140875817 [GRCh38]
Chr5:140255402 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2280G>C (p.Glu760Asp) single nucleotide variant not specified [RCV004141716] Chr5:140871383 [GRCh38]
Chr5:140250968 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1442C>T (p.Ala481Val) single nucleotide variant not specified [RCV004088677] Chr5:140870545 [GRCh38]
Chr5:140250130 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2224A>G (p.Ile742Val) single nucleotide variant not specified [RCV004171315] Chr5:140929116 [GRCh38]
Chr5:140308701 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018898.5(PCDHAC1):c.143C>A (p.Ala48Asp) single nucleotide variant not specified [RCV004136321] Chr5:140927035 [GRCh38]
Chr5:140306620 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.361G>T (p.Val121Leu) single nucleotide variant not specified [RCV004194302] Chr5:140875833 [GRCh38]
Chr5:140255418 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.107A>C (p.Tyr36Ser) single nucleotide variant not specified [RCV004100932] Chr5:140875579 [GRCh38]
Chr5:140255164 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2038G>T (p.Val680Leu) single nucleotide variant not specified [RCV004204006] Chr5:140968804 [GRCh38]
Chr5:140348389 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.996C>A (p.His332Gln) single nucleotide variant not specified [RCV004140063] Chr5:140870099 [GRCh38]
Chr5:140249684 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.106G>T (p.Val36Leu) single nucleotide variant not specified [RCV004148880] Chr5:140926998 [GRCh38]
Chr5:140306583 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1688C>A (p.Pro563Gln) single nucleotide variant not specified [RCV004104649] Chr5:140877160 [GRCh38]
Chr5:140256745 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.361G>A (p.Val121Met) single nucleotide variant not specified [RCV004128515] Chr5:140875833 [GRCh38]
Chr5:140255418 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2111T>C (p.Ile704Thr) single nucleotide variant not specified [RCV004098181] Chr5:140968877 [GRCh38]
Chr5:140348462 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.509A>G (p.Tyr170Cys) single nucleotide variant not specified [RCV004100327] Chr5:140875981 [GRCh38]
Chr5:140255566 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.545T>C (p.Ile182Thr) single nucleotide variant not specified [RCV004129197] Chr5:140876017 [GRCh38]
Chr5:140255602 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2013C>A (p.Ser671Arg) single nucleotide variant not specified [RCV004204464] Chr5:140871116 [GRCh38]
Chr5:140250701 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.320A>G (p.Glu107Gly) single nucleotide variant not specified [RCV004092544] Chr5:140882588 [GRCh38]
Chr5:140262173 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1249G>T (p.Val417Leu) single nucleotide variant not specified [RCV004121832] Chr5:140870352 [GRCh38]
Chr5:140249937 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.881A>G (p.Gln294Arg) single nucleotide variant not specified [RCV004127145] Chr5:140927773 [GRCh38]
Chr5:140307358 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1469T>C (p.Val490Ala) single nucleotide variant not specified [RCV004188344] Chr5:140876941 [GRCh38]
Chr5:140256526 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1636G>A (p.Gly546Ser) single nucleotide variant not specified [RCV004193522] Chr5:140877108 [GRCh38]
Chr5:140256693 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.38G>T (p.Arg13Leu) single nucleotide variant not specified [RCV004090210] Chr5:140875510 [GRCh38]
Chr5:140255095 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1261G>A (p.Glu421Lys) single nucleotide variant not specified [RCV004192997] Chr5:140870364 [GRCh38]
Chr5:140249949 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1387A>G (p.Asn463Asp) single nucleotide variant not specified [RCV004091016] Chr5:140968153 [GRCh38]
Chr5:140347738 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1523C>T (p.Ser508Leu) single nucleotide variant not specified [RCV004118095] Chr5:140870626 [GRCh38]
Chr5:140250211 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1904T>C (p.Val635Ala) single nucleotide variant not specified [RCV004125849] Chr5:140968670 [GRCh38]
Chr5:140348255 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.682A>G (p.Thr228Ala) single nucleotide variant not specified [RCV004096588] Chr5:140967448 [GRCh38]
Chr5:140347033 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1645G>A (p.Val549Met) single nucleotide variant not specified [RCV004106224] Chr5:140883913 [GRCh38]
Chr5:140263498 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1522G>A (p.Val508Met) single nucleotide variant not specified [RCV004146133] Chr5:140883790 [GRCh38]
Chr5:140263375 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.179T>C (p.Val60Ala) single nucleotide variant not specified [RCV004137792] Chr5:140875651 [GRCh38]
Chr5:140255236 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.436G>A (p.Ala146Thr) single nucleotide variant not specified [RCV004100896] Chr5:140875908 [GRCh38]
Chr5:140255493 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1682A>T (p.Asn561Ile) single nucleotide variant not specified [RCV004209256] Chr5:140883950 [GRCh38]
Chr5:140263535 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.158G>A (p.Gly53Glu) single nucleotide variant not specified [RCV004233575] Chr5:140869261 [GRCh38]
Chr5:140248846 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.2111T>C (p.Ile704Thr) single nucleotide variant not specified [RCV004140127] Chr5:140877583 [GRCh38]
Chr5:140257168 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.680G>C (p.Arg227Pro) single nucleotide variant not specified [RCV004184307] Chr5:140869783 [GRCh38]
Chr5:140249368 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1204C>A (p.Pro402Thr) single nucleotide variant not specified [RCV004141786] Chr5:140928096 [GRCh38]
Chr5:140307681 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.106T>C (p.Tyr36His) single nucleotide variant not specified [RCV004130140] Chr5:140875578 [GRCh38]
Chr5:140255163 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1490G>T (p.Arg497Leu) single nucleotide variant not specified [RCV004194704] Chr5:140876962 [GRCh38]
Chr5:140256547 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.827C>A (p.Thr276Lys) single nucleotide variant not specified [RCV004095333] Chr5:140927719 [GRCh38]
Chr5:140307304 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2155A>G (p.Thr719Ala) single nucleotide variant not specified [RCV004101864] Chr5:140884423 [GRCh38]
Chr5:140264008 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.452A>G (p.Asp151Gly) single nucleotide variant not specified [RCV004189313] Chr5:140927344 [GRCh38]
Chr5:140306929 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1310C>G (p.Thr437Arg) single nucleotide variant not specified [RCV004079776] Chr5:140870413 [GRCh38]
Chr5:140249998 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.14G>T (p.Trp5Leu) single nucleotide variant not specified [RCV004232800] Chr5:140882282 [GRCh38]
Chr5:140261867 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.4C>G (p.Leu2Val) single nucleotide variant not specified [RCV004150476] Chr5:140882272 [GRCh38]
Chr5:140261857 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.2212G>T (p.Gly738Cys) single nucleotide variant not specified [RCV004177607] Chr5:140968978 [GRCh38]
Chr5:140348563 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.540C>G (p.Ser180Arg) single nucleotide variant not specified [RCV004226120] Chr5:140927432 [GRCh38]
Chr5:140307017 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.418G>A (p.Val140Ile) single nucleotide variant not specified [RCV004112400] Chr5:140875890 [GRCh38]
Chr5:140255475 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1193G>A (p.Arg398Gln) single nucleotide variant not specified [RCV004100838] Chr5:140967959 [GRCh38]
Chr5:140347544 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1741C>T (p.Pro581Ser) single nucleotide variant not specified [RCV004129296] Chr5:140870844 [GRCh38]
Chr5:140250429 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.811C>T (p.Pro271Ser) single nucleotide variant not specified [RCV004100346] Chr5:140967577 [GRCh38]
Chr5:140347162 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.778C>A (p.Pro260Thr) single nucleotide variant not specified [RCV004132204] Chr5:140927670 [GRCh38]
Chr5:140307255 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1897A>C (p.Thr633Pro) single nucleotide variant not specified [RCV004245241] Chr5:140877369 [GRCh38]
Chr5:140256954 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1555G>T (p.Ala519Ser) single nucleotide variant not specified [RCV004186533] Chr5:140877027 [GRCh38]
Chr5:140256612 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.394G>A (p.Val132Met) single nucleotide variant not specified [RCV004145749] Chr5:140869497 [GRCh38]
Chr5:140249082 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.917C>T (p.Thr306Ile) single nucleotide variant not specified [RCV004162456] Chr5:140870020 [GRCh38]
Chr5:140249605 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.1292G>A (p.Arg431Gln) single nucleotide variant not specified [RCV004227471] Chr5:140968058 [GRCh38]
Chr5:140347643 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1517C>T (p.Ala506Val) single nucleotide variant not specified [RCV004097033] Chr5:140928409 [GRCh38]
Chr5:140307994 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1795G>A (p.Ala599Thr) single nucleotide variant not specified [RCV004222282] Chr5:140877267 [GRCh38]
Chr5:140256852 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.269T>C (p.Ile90Thr) single nucleotide variant not specified [RCV004159275] Chr5:140875741 [GRCh38]
Chr5:140255326 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2098A>G (p.Ile700Val) single nucleotide variant not specified [RCV004204510] Chr5:140871201 [GRCh38]
Chr5:140250786 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.934A>G (p.Asn312Asp) single nucleotide variant not specified [RCV004109950] Chr5:140870037 [GRCh38]
Chr5:140249622 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1195A>C (p.Lys399Gln) single nucleotide variant not specified [RCV004137992] Chr5:140967961 [GRCh38]
Chr5:140347546 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1688C>T (p.Pro563Leu) single nucleotide variant not specified [RCV004223075] Chr5:140877160 [GRCh38]
Chr5:140256745 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.757G>A (p.Glu253Lys) single nucleotide variant not specified [RCV004167432] Chr5:140883025 [GRCh38]
Chr5:140262610 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1222A>C (p.Ile408Leu) single nucleotide variant not specified [RCV004230358] Chr5:140928114 [GRCh38]
Chr5:140307699 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2252G>A (p.Arg751Lys) single nucleotide variant not specified [RCV004202021] Chr5:140969018 [GRCh38]
Chr5:140348603 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1895C>G (p.Thr632Arg) single nucleotide variant not specified [RCV004225408] Chr5:140870998 [GRCh38]
Chr5:140250583 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.535G>A (p.Gly179Ser) single nucleotide variant not specified [RCV004111559] Chr5:140927427 [GRCh38]
Chr5:140307012 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1952T>G (p.Val651Gly) single nucleotide variant not specified [RCV004106948] Chr5:140884220 [GRCh38]
Chr5:140263805 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2043C>G (p.Asn681Lys) single nucleotide variant not specified [RCV004153192] Chr5:140928935 [GRCh38]
Chr5:140308520 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2050G>C (p.Gly684Arg) single nucleotide variant not specified [RCV004190868] Chr5:140871153 [GRCh38]
Chr5:140250738 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.712A>T (p.Asn238Tyr) single nucleotide variant not specified [RCV004077060] Chr5:140882980 [GRCh38]
Chr5:140262565 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1447G>T (p.Ala483Ser) single nucleotide variant not specified [RCV004212676] Chr5:140870550 [GRCh38]
Chr5:140250135 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1888G>C (p.Glu630Gln) single nucleotide variant not specified [RCV004111441] Chr5:140884156 [GRCh38]
Chr5:140263741 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1895G>C (p.Ser632Thr) single nucleotide variant not specified [RCV004205135] Chr5:140877367 [GRCh38]
Chr5:140256952 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2269G>A (p.Val757Met) single nucleotide variant not specified [RCV004129509] Chr5:140871372 [GRCh38]
Chr5:140250957 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.920A>C (p.Glu307Ala) single nucleotide variant not specified [RCV004207465] Chr5:140876392 [GRCh38]
Chr5:140255977 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.492C>G (p.Ser164Arg) single nucleotide variant not specified [RCV004069301] Chr5:140927384 [GRCh38]
Chr5:140306969 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1129C>A (p.Arg377Ser) single nucleotide variant not specified [RCV004201171] Chr5:140876601 [GRCh38]
Chr5:140256186 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1928G>A (p.Arg643His) single nucleotide variant not specified [RCV004107964] Chr5:140871031 [GRCh38]
Chr5:140250616 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1544G>T (p.Gly515Val) single nucleotide variant not specified [RCV004216743] Chr5:140877016 [GRCh38]
Chr5:140256601 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1406C>A (p.Pro469Gln) single nucleotide variant not specified [RCV004089717] Chr5:140883674 [GRCh38]
Chr5:140263259 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.187G>C (p.Glu63Gln) single nucleotide variant not specified [RCV004227102] Chr5:140927079 [GRCh38]
Chr5:140306664 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1748T>C (p.Val583Ala) single nucleotide variant not specified [RCV004124384] Chr5:140928640 [GRCh38]
Chr5:140308225 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1000T>C (p.Cys334Arg) single nucleotide variant not specified [RCV004169438] Chr5:140883268 [GRCh38]
Chr5:140262853 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.913T>C (p.Tyr305His) single nucleotide variant not specified [RCV004179514] Chr5:140876385 [GRCh38]
Chr5:140255970 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.762C>G (p.Asn254Lys) single nucleotide variant not specified [RCV004096113] Chr5:140883030 [GRCh38]
Chr5:140262615 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1649A>G (p.Asp550Gly) single nucleotide variant not specified [RCV004158258] Chr5:140928541 [GRCh38]
Chr5:140308126 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.460C>A (p.Leu154Ile) single nucleotide variant not specified [RCV004112731] Chr5:140875932 [GRCh38]
Chr5:140255517 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.973A>G (p.Lys325Glu) single nucleotide variant not specified [RCV004209063] Chr5:140927865 [GRCh38]
Chr5:140307450 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2192C>G (p.Ala731Gly) single nucleotide variant not specified [RCV004120532] Chr5:140884460 [GRCh38]
Chr5:140264045 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2295G>T (p.Lys765Asn) single nucleotide variant not specified [RCV004163058] Chr5:140871398 [GRCh38]
Chr5:140250983 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1292G>A (p.Gly431Asp) single nucleotide variant not specified [RCV004140129] Chr5:140883560 [GRCh38]
Chr5:140263145 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1166C>T (p.Thr389Met) single nucleotide variant not specified [RCV004118529] Chr5:140870269 [GRCh38]
Chr5:140249854 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1501C>A (p.Arg501Ser) single nucleotide variant not specified [RCV004108108] Chr5:140870604 [GRCh38]
Chr5:140250189 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.941A>G (p.Asp314Gly) single nucleotide variant not specified [RCV004099569] Chr5:140927833 [GRCh38]
Chr5:140307418 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.821A>G (p.Asn274Ser) single nucleotide variant not specified [RCV004110450] Chr5:140876293 [GRCh38]
Chr5:140255878 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1865G>A (p.Arg622His) single nucleotide variant not specified [RCV004069589] Chr5:140870968 [GRCh38]
Chr5:140250553 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2236A>G (p.Thr746Ala) single nucleotide variant not specified [RCV004079894] Chr5:140929128 [GRCh38]
Chr5:140308713 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1230C>A (p.Asp410Glu) single nucleotide variant not specified [RCV004092402] Chr5:140876702 [GRCh38]
Chr5:140256287 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.406G>A (p.Val136Met) single nucleotide variant not specified [RCV004142375] Chr5:140967172 [GRCh38]
Chr5:140346757 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.2242T>G (p.Trp748Gly) single nucleotide variant not specified [RCV004099293] Chr5:140877714 [GRCh38]
Chr5:140257299 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1067T>G (p.Val356Gly) single nucleotide variant not specified [RCV004177039] Chr5:140967833 [GRCh38]
Chr5:140347418 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.805C>G (p.Pro269Ala) single nucleotide variant not specified [RCV004092403] Chr5:140876277 [GRCh38]
Chr5:140255862 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1565C>T (p.Pro522Leu) single nucleotide variant not specified [RCV004121961] Chr5:140877037 [GRCh38]
Chr5:140256622 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1705G>A (p.Ala569Thr) single nucleotide variant not specified [RCV004210057] Chr5:140870808 [GRCh38]
Chr5:140250393 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.2093T>C (p.Val698Ala) single nucleotide variant not specified [RCV004140126] Chr5:140877565 [GRCh38]
Chr5:140257150 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1319G>C (p.Arg440Thr) single nucleotide variant not specified [RCV004237067] Chr5:140876791 [GRCh38]
Chr5:140256376 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1522G>A (p.Val508Met) single nucleotide variant not specified [RCV004179615] Chr5:140876994 [GRCh38]
Chr5:140256579 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1396G>A (p.Glu466Lys) single nucleotide variant not specified [RCV004183303] Chr5:140883664 [GRCh38]
Chr5:140263249 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1589G>C (p.Ser530Thr) single nucleotide variant not specified [RCV004179424] Chr5:140968355 [GRCh38]
Chr5:140347940 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1637G>A (p.Gly546Asp) single nucleotide variant not specified [RCV004176197] Chr5:140877109 [GRCh38]
Chr5:140256694 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1165G>T (p.Ala389Ser) single nucleotide variant not specified [RCV004180455] Chr5:140928057 [GRCh38]
Chr5:140307642 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1250G>A (p.Ser417Asn) single nucleotide variant not specified [RCV004224477] Chr5:140876722 [GRCh38]
Chr5:140256307 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1349C>T (p.Thr450Ile) single nucleotide variant not specified [RCV004216881] Chr5:140968115 [GRCh38]
Chr5:140347700 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.358A>G (p.Asn120Asp) single nucleotide variant not specified [RCV004330006] Chr5:140869461 [GRCh38]
Chr5:140249046 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.1500C>G (p.Asp500Glu) single nucleotide variant not specified [RCV004312466] Chr5:140870603 [GRCh38]
Chr5:140250188 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.211C>G (p.His71Asp) single nucleotide variant not specified [RCV004312476] Chr5:140875683 [GRCh38]
Chr5:140255268 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1546A>C (p.Lys516Gln) single nucleotide variant not specified [RCV004312481] Chr5:140883814 [GRCh38]
Chr5:140263399 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2276C>T (p.Ser759Phe) single nucleotide variant not specified [RCV004275464] Chr5:140871379 [GRCh38]
Chr5:140250964 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2090A>G (p.Asn697Ser) single nucleotide variant not specified [RCV004270472] Chr5:140884358 [GRCh38]
Chr5:140263943 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1999T>A (p.Phe667Ile) single nucleotide variant not specified [RCV004284691] Chr5:140928891 [GRCh38]
Chr5:140308476 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.263C>G (p.Ser88Cys) single nucleotide variant not specified [RCV004248339] Chr5:140875735 [GRCh38]
Chr5:140255320 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1853C>T (p.Ala618Val) single nucleotide variant not specified [RCV004267880] Chr5:140877325 [GRCh38]
Chr5:140256910 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.776A>G (p.Gln259Arg) single nucleotide variant not specified [RCV004281105] Chr5:140967542 [GRCh38]
Chr5:140347127 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1885G>A (p.Glu629Lys) single nucleotide variant not specified [RCV004276456] Chr5:140870988 [GRCh38]
Chr5:140250573 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2165G>T (p.Trp722Leu) single nucleotide variant not specified [RCV004253348] Chr5:140871268 [GRCh38]
Chr5:140250853 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.517A>G (p.Met173Val) single nucleotide variant not specified [RCV004276413] Chr5:140927409 [GRCh38]
Chr5:140306994 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1114A>G (p.Ser372Gly) single nucleotide variant not specified [RCV004267947] Chr5:140870217 [GRCh38]
Chr5:140249802 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1277C>G (p.Thr426Ser) single nucleotide variant not specified [RCV004333812] Chr5:140883545 [GRCh38]
Chr5:140263130 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1361C>T (p.Ala454Val) single nucleotide variant not specified [RCV004333815] Chr5:140883629 [GRCh38]
Chr5:140263214 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1440G>C (p.Gln480His) single nucleotide variant not specified [RCV004333818] Chr5:140883708 [GRCh38]
Chr5:140263293 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.151G>A (p.Asp51Asn) single nucleotide variant not specified [RCV004274626] Chr5:140882419 [GRCh38]
Chr5:140262004 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1123G>C (p.Val375Leu) single nucleotide variant not specified [RCV004279858] Chr5:140928015 [GRCh38]
Chr5:140307600 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1288G>A (p.Gly430Ser) single nucleotide variant not specified [RCV004273859] Chr5:140870391 [GRCh38]
Chr5:140249976 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2233G>A (p.Gly745Arg) single nucleotide variant not specified [RCV004271330] Chr5:140871336 [GRCh38]
Chr5:140250921 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1750T>C (p.Ser584Pro) single nucleotide variant not specified [RCV004248813] Chr5:140877222 [GRCh38]
Chr5:140256807 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1844G>A (p.Gly615Asp) single nucleotide variant not specified [RCV004281003] Chr5:140870947 [GRCh38]
Chr5:140250532 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2018C>G (p.Pro673Arg) single nucleotide variant not specified [RCV004280365] Chr5:140928910 [GRCh38]
Chr5:140308495 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1189C>A (p.Leu397Met) single nucleotide variant not specified [RCV004277567] Chr5:140883457 [GRCh38]
Chr5:140263042 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1190T>G (p.Leu397Arg) single nucleotide variant not specified [RCV004277568] Chr5:140883458 [GRCh38]
Chr5:140263043 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1405C>G (p.Pro469Ala) single nucleotide variant not specified [RCV004333816] Chr5:140883673 [GRCh38]
Chr5:140263258 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1915C>T (p.Arg639Trp) single nucleotide variant not specified [RCV004346642] Chr5:140928807 [GRCh38]
Chr5:140308392 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1726G>A (p.Ala576Thr) single nucleotide variant not specified [RCV004349770] Chr5:140877198 [GRCh38]
Chr5:140256783 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2197C>T (p.Arg733Cys) single nucleotide variant not specified [RCV004338873] Chr5:140968963 [GRCh38]
Chr5:140348548 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1067G>A (p.Gly356Asp) single nucleotide variant not specified [RCV004348696] Chr5:140927959 [GRCh38]
Chr5:140307544 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2207C>A (p.Ala736Glu) single nucleotide variant not specified [RCV004361436] Chr5:140968973 [GRCh38]
Chr5:140348558 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.604G>A (p.Val202Met) single nucleotide variant not specified [RCV004352820] Chr5:140927496 [GRCh38]
Chr5:140307081 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.286T>G (p.Cys96Gly) single nucleotide variant not specified [RCV004353799] Chr5:140882554 [GRCh38]
Chr5:140262139 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.856G>A (p.Val286Met) single nucleotide variant not specified [RCV004345541] Chr5:140927748 [GRCh38]
Chr5:140307333 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1010T>C (p.Leu337Ser) single nucleotide variant not specified [RCV004351650] Chr5:140883278 [GRCh38]
Chr5:140262863 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.140G>C (p.Arg47Pro) single nucleotide variant not specified [RCV004357948] Chr5:140882408 [GRCh38]
Chr5:140261993 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1582A>G (p.Ser528Gly) single nucleotide variant not specified [RCV004357320] Chr5:140968348 [GRCh38]
Chr5:140347933 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1214C>G (p.Ser405Trp) single nucleotide variant not specified [RCV004339030] Chr5:140870317 [GRCh38]
Chr5:140249902 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.719C>T (p.Pro240Leu) single nucleotide variant not specified [RCV004351156] Chr5:140882987 [GRCh38]
Chr5:140262572 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1195A>T (p.Ile399Phe) single nucleotide variant not specified [RCV004354178] Chr5:140928087 [GRCh38]
Chr5:140307672 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1664T>G (p.Val555Gly) single nucleotide variant not specified [RCV004352191] Chr5:140877136 [GRCh38]
Chr5:140256721 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1193T>C (p.Val398Ala) single nucleotide variant not specified [RCV004345586] Chr5:140876665 [GRCh38]
Chr5:140256250 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1444G>A (p.Ala482Thr) single nucleotide variant not specified [RCV004342830] Chr5:140883712 [GRCh38]
Chr5:140263297 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.849G>T (p.Arg283Ser) single nucleotide variant not specified [RCV004361988] Chr5:140883117 [GRCh38]
Chr5:140262702 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2134G>T (p.Val712Leu) single nucleotide variant not specified [RCV004349716] Chr5:140884402 [GRCh38]
Chr5:140263987 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2306T>C (p.Met769Thr) single nucleotide variant not specified [RCV004356599] Chr5:140871409 [GRCh38]
Chr5:140250994 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.989T>C (p.Val330Ala) single nucleotide variant not specified [RCV004343426] Chr5:140927881 [GRCh38]
Chr5:140307466 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.995A>G (p.His332Arg) single nucleotide variant not specified [RCV004362921] Chr5:140870098 [GRCh38]
Chr5:140249683 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.182C>A (p.Pro61Gln) single nucleotide variant not specified [RCV004361811] Chr5:140882450 [GRCh38]
Chr5:140262035 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2141C>G (p.Thr714Arg) single nucleotide variant not specified [RCV004361812] Chr5:140884409 [GRCh38]
Chr5:140263994 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.145G>T (p.Ala49Ser) single nucleotide variant not specified [RCV004366151] Chr5:140875617 [GRCh38]
Chr5:140255202 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.653G>A (p.Gly218Glu) single nucleotide variant not specified [RCV004339408] Chr5:140869756 [GRCh38]
Chr5:140249341 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1735T>G (p.Leu579Val) single nucleotide variant not specified [RCV004348992] Chr5:140928627 [GRCh38]
Chr5:140308212 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1771G>T (p.Gly591Cys) single nucleotide variant not specified [RCV004363807] Chr5:140928663 [GRCh38]
Chr5:140308248 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.850C>G (p.Pro284Ala) single nucleotide variant not specified [RCV004352119] Chr5:140883118 [GRCh38]
Chr5:140262703 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1955A>G (p.Lys652Arg) single nucleotide variant not specified [RCV004359008] Chr5:140884223 [GRCh38]
Chr5:140263808 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1428G>C (p.Thr476=) single nucleotide variant not provided [RCV003429815] Chr5:140883696 [GRCh38]
Chr5:140263281 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.516A>G (p.Leu172=) single nucleotide variant not provided [RCV003429810] Chr5:140869619 [GRCh38]
Chr5:140249204 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.1800A>C (p.Ser600=) single nucleotide variant not provided [RCV003429812] Chr5:140870903 [GRCh38]
Chr5:140250488 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018898.5(PCDHAC1):c.1671T>C (p.Phe557=) single nucleotide variant not provided [RCV003429819] Chr5:140928563 [GRCh38]
Chr5:140308148 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.1813G>T (p.Ala605Ser) single nucleotide variant not provided [RCV003429814] Chr5:140877285 [GRCh38]
Chr5:140256870 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.1911G>A (p.Leu637=) single nucleotide variant not provided [RCV003457448] Chr5:140968677 [GRCh38]
Chr5:140348262 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.1407A>G (p.Pro469=) single nucleotide variant not provided [RCV003429811] Chr5:140870510 [GRCh38]
Chr5:140250095 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.2202G>A (p.Pro734=) single nucleotide variant not provided [RCV003429818] Chr5:140884470 [GRCh38]
Chr5:140264055 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.768A>G (p.Gln256=) single nucleotide variant not provided [RCV003429813] Chr5:140876240 [GRCh38]
Chr5:140255825 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.2391+12410G>A single nucleotide variant not provided [RCV003429816] Chr5:140883904 [GRCh38]
Chr5:140263489 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2385+74492C>A single nucleotide variant not provided [RCV003429817] Chr5:140884064 [GRCh38]
Chr5:140263649 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.2460G>A (p.Ser820=) single nucleotide variant not provided [RCV003429821] Chr5:140969226 [GRCh38]
Chr5:140348811 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.98A>G (p.Tyr33Cys) single nucleotide variant not provided [RCV003429808] Chr5:140869201 [GRCh38]
Chr5:140248786 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018907.4(PCDHA4):c.2385+59713A>C single nucleotide variant not provided [RCV003429809] Chr5:140869285 [GRCh38]
Chr5:140248870 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.1161C>G (p.Leu387=) single nucleotide variant not provided [RCV003429820] Chr5:140967927 [GRCh38]
Chr5:140347512 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.292C>A (p.Arg98=) single nucleotide variant not provided [RCV003428628] Chr5:140882560 [GRCh38]
Chr5:140262145 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.480G>T (p.Ser160=) single nucleotide variant not provided [RCV003428630] Chr5:140967246 [GRCh38]
Chr5:140346831 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.2164C>A (p.Arg722=) single nucleotide variant not provided [RCV003428629] Chr5:140884432 [GRCh38]
Chr5:140264017 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.309T>C (p.Ser103=) single nucleotide variant not provided [RCV003885571] Chr5:140875781 [GRCh38]
Chr5:140255366 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.299C>T (p.Ala100Val) single nucleotide variant not provided [RCV003885570] Chr5:140875771 [GRCh38]
Chr5:140255356 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.2543-9_2543-8del deletion PCDHA13-related disorder [RCV003941959] Chr5:141009617..141009618 [GRCh38]
Chr5:140389202..140389203 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.2802C>T (p.Thr934=) single nucleotide variant PCDHA13-related disorder [RCV003942030] Chr5:141009886 [GRCh38]
Chr5:140389471 [GRCh37]
Chr5:5q31.3		 benign
NM_018898.5(PCDHAC1):c.1423G>A (p.Gly475Arg) single nucleotide variant not specified [RCV004497872] Chr5:140928315 [GRCh38]
Chr5:140307900 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1661T>A (p.Val554Asp) single nucleotide variant not specified [RCV004497873] Chr5:140928553 [GRCh38]
Chr5:140308138 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.196G>C (p.Gly66Arg) single nucleotide variant not specified [RCV004497886] Chr5:140966962 [GRCh38]
Chr5:140346547 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1514C>T (p.Thr505Ile) single nucleotide variant not specified [RCV004497885] Chr5:140968280 [GRCh38]
Chr5:140347865 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.806A>C (p.Gln269Pro) single nucleotide variant not specified [RCV004497882] Chr5:140927698 [GRCh38]
Chr5:140307283 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.314T>C (p.Ile105Thr) single nucleotide variant not specified [RCV004497889] Chr5:140967080 [GRCh38]
Chr5:140346665 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2096G>A (p.Arg699Gln) single nucleotide variant not specified [RCV004497887] Chr5:140968862 [GRCh38]
Chr5:140348447 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.442G>A (p.Ala148Thr) single nucleotide variant not specified [RCV004497878] Chr5:140927334 [GRCh38]
Chr5:140306919 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1181A>G (p.Tyr394Cys) single nucleotide variant not specified [RCV004497870] Chr5:140928073 [GRCh38]
Chr5:140307658 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.129G>C (p.Gln43His) single nucleotide variant not specified [RCV004497884] Chr5:140966895 [GRCh38]
Chr5:140346480 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.686A>G (p.Asn229Ser) single nucleotide variant not specified [RCV004497881] Chr5:140927578 [GRCh38]
Chr5:140307163 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1492C>T (p.Arg498Trp) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557865] Chr5:140876964 [GRCh38]
Chr5:140256549 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.2206G>A (p.Ala736Thr) single nucleotide variant not specified [RCV004497888] Chr5:140968972 [GRCh38]
Chr5:140348557 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.307A>G (p.Ser103Gly) single nucleotide variant not specified [RCV004505188] Chr5:140869410 [GRCh38]
Chr5:140248995 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1093G>C (p.Val365Leu) single nucleotide variant not specified [RCV004505193] Chr5:140876565 [GRCh38]
Chr5:140256150 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1456A>G (p.Lys486Glu) single nucleotide variant not specified [RCV004505195] Chr5:140876928 [GRCh38]
Chr5:140256513 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.2200C>T (p.Pro734Ser) single nucleotide variant not specified [RCV004505203] Chr5:140877672 [GRCh38]
Chr5:140257257 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.2213C>T (p.Thr738Met) single nucleotide variant not specified [RCV004505204] Chr5:140877685 [GRCh38]
Chr5:140257270 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.274C>T (p.Arg92Cys) single nucleotide variant not specified [RCV004505207] Chr5:140875746 [GRCh38]
Chr5:140255331 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.860T>C (p.Val287Ala) single nucleotide variant not specified [RCV004505216] Chr5:140876332 [GRCh38]
Chr5:140255917 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1108G>T (p.Ala370Ser) single nucleotide variant not specified [RCV004505219] Chr5:140883376 [GRCh38]
Chr5:140262961 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1644C>G (p.Asn548Lys) single nucleotide variant not specified [RCV004505226] Chr5:140883912 [GRCh38]
Chr5:140263497 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1804G>T (p.Gly602Cys) single nucleotide variant not specified [RCV004505227] Chr5:140884072 [GRCh38]
Chr5:140263657 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.484A>G (p.Ile162Val) single nucleotide variant not specified [RCV004505236] Chr5:140882752 [GRCh38]
Chr5:140262337 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.545C>A (p.Ala182Glu) single nucleotide variant not specified [RCV004505239] Chr5:140882813 [GRCh38]
Chr5:140262398 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1742C>T (p.Pro581Leu) single nucleotide variant not specified [RCV004505185] Chr5:140870845 [GRCh38]
Chr5:140250430 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1935C>G (p.His645Gln) single nucleotide variant not specified [RCV004505200] Chr5:140877407 [GRCh38]
Chr5:140256992 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018903.4(PCDHA12):c.2075C>T (p.Ala692Val) single nucleotide variant not specified [RCV004505202] Chr5:140877547 [GRCh38]
Chr5:140257132 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.418G>T (p.Val140Leu) single nucleotide variant not specified [RCV004505211] Chr5:140875890 [GRCh38]
Chr5:140255475 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1189C>G (p.Leu397Val) single nucleotide variant not specified [RCV004497871] Chr5:140928081 [GRCh38]
Chr5:140307666 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.710G>T (p.Arg237Leu) single nucleotide variant not specified [RCV004497890] Chr5:140967476 [GRCh38]
Chr5:140347061 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.577C>G (p.Arg193Gly) single nucleotide variant not specified [RCV004497879] Chr5:140927469 [GRCh38]
Chr5:140307054 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1318G>T (p.Val440Leu) single nucleotide variant not specified [RCV004505182] Chr5:140870421 [GRCh38]
Chr5:140250006 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.514C>G (p.Leu172Val) single nucleotide variant not specified [RCV004505190] Chr5:140869617 [GRCh38]
Chr5:140249202 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1678G>T (p.Asp560Tyr) single nucleotide variant not specified [RCV004505199] Chr5:140877150 [GRCh38]
Chr5:140256735 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1109C>T (p.Ala370Val) single nucleotide variant not specified [RCV004505220] Chr5:140883377 [GRCh38]
Chr5:140262962 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1522G>T (p.Val508Leu) single nucleotide variant not specified [RCV004505223] Chr5:140883790 [GRCh38]
Chr5:140263375 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1612C>T (p.Arg538Cys) single nucleotide variant not specified [RCV004505225] Chr5:140883880 [GRCh38]
Chr5:140263465 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1849G>A (p.Gly617Ser) single nucleotide variant not specified [RCV004505229] Chr5:140884117 [GRCh38]
Chr5:140263702 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.848G>A (p.Arg283Lys) single nucleotide variant not specified [RCV004505243] Chr5:140883116 [GRCh38]
Chr5:140262701 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1781G>T (p.Arg594Leu) single nucleotide variant not specified [RCV004505186] Chr5:140870884 [GRCh38]
Chr5:140250469 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.487G>A (p.Glu163Lys) single nucleotide variant not specified [RCV004505189] Chr5:140869590 [GRCh38]
Chr5:140249175 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1678G>C (p.Asp560His) single nucleotide variant not specified [RCV004505198] Chr5:140877150 [GRCh38]
Chr5:140256735 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.371A>G (p.Lys124Arg) single nucleotide variant not specified [RCV004505209] Chr5:140875843 [GRCh38]
Chr5:140255428 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.673T>C (p.Ser225Pro) single nucleotide variant not specified [RCV004505213] Chr5:140876145 [GRCh38]
Chr5:140255730 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.824G>C (p.Gly275Ala) single nucleotide variant not specified [RCV004505215] Chr5:140876296 [GRCh38]
Chr5:140255881 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1233C>A (p.Ser411Arg) single nucleotide variant not specified [RCV004505221] Chr5:140883501 [GRCh38]
Chr5:140263086 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.742A>G (p.Lys248Glu) single nucleotide variant not specified [RCV004505242] Chr5:140883010 [GRCh38]
Chr5:140262595 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.839T>G (p.Leu280Arg) single nucleotide variant not specified [RCV004497883] Chr5:140927731 [GRCh38]
Chr5:140307316 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.285G>T (p.Leu95Phe) single nucleotide variant not specified [RCV004497876] Chr5:140927177 [GRCh38]
Chr5:140306762 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2291C>T (p.Ser764Phe) single nucleotide variant not specified [RCV004497875] Chr5:140929183 [GRCh38]
Chr5:140308768 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.311C>T (p.Pro104Leu) single nucleotide variant not specified [RCV004497877] Chr5:140927203 [GRCh38]
Chr5:140306788 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1412G>A (p.Cys471Tyr) single nucleotide variant not specified [RCV004505183] Chr5:140870515 [GRCh38]
Chr5:140250100 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1414C>T (p.His472Tyr) single nucleotide variant not specified [RCV004505184] Chr5:140870517 [GRCh38]
Chr5:140250102 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.293A>G (p.Gln98Arg) single nucleotide variant not specified [RCV004505187] Chr5:140869396 [GRCh38]
Chr5:140248981 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018902.5(PCDHA11):c.723G>T (p.Glu241Asp) single nucleotide variant not specified [RCV004505191] Chr5:140869826 [GRCh38]
Chr5:140249411 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.824G>A (p.Gly275Glu) single nucleotide variant not specified [RCV004505192] Chr5:140869927 [GRCh38]
Chr5:140249512 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1586A>G (p.Glu529Gly) single nucleotide variant not specified [RCV004505197] Chr5:140877058 [GRCh38]
Chr5:140256643 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.2270G>T (p.Arg757Met) single nucleotide variant not specified [RCV004505206] Chr5:140877742 [GRCh38]
Chr5:140257327 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.292C>T (p.Arg98Trp) single nucleotide variant not specified [RCV004505208] Chr5:140875764 [GRCh38]
Chr5:140255349 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.417G>T (p.Lys139Asn) single nucleotide variant not specified [RCV004505210] Chr5:140875889 [GRCh38]
Chr5:140255474 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.577G>A (p.Glu193Lys) single nucleotide variant not specified [RCV004505212] Chr5:140876049 [GRCh38]
Chr5:140255634 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.746T>C (p.Val249Ala) single nucleotide variant not specified [RCV004505214] Chr5:140876218 [GRCh38]
Chr5:140255803 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1474T>C (p.Tyr492His) single nucleotide variant not specified [RCV004505222] Chr5:140883742 [GRCh38]
Chr5:140263327 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1535C>T (p.Ala512Val) single nucleotide variant not specified [RCV004505224] Chr5:140883803 [GRCh38]
Chr5:140263388 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2048C>T (p.Ser683Leu) single nucleotide variant not specified [RCV004505230] Chr5:140884316 [GRCh38]
Chr5:140263901 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018904.3(PCDHA13):c.2051C>T (p.Ala684Val) single nucleotide variant not specified [RCV004505231] Chr5:140884319 [GRCh38]
Chr5:140263904 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.2351A>C (p.Glu784Ala) single nucleotide variant not specified [RCV004505233] Chr5:140884619 [GRCh38]
Chr5:140264204 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.280G>A (p.Glu94Lys) single nucleotide variant not specified [RCV004505234] Chr5:140882548 [GRCh38]
Chr5:140262133 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.439C>A (p.Pro147Thr) single nucleotide variant not specified [RCV004505235] Chr5:140882707 [GRCh38]
Chr5:140262292 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.512G>A (p.Arg171Gln) single nucleotide variant not specified [RCV004505237] Chr5:140882780 [GRCh38]
Chr5:140262365 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.623A>T (p.His208Leu) single nucleotide variant not specified [RCV004505240] Chr5:140882891 [GRCh38]
Chr5:140262476 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.626G>A (p.Ser209Asn) single nucleotide variant not specified [RCV004505241] Chr5:140882894 [GRCh38]
Chr5:140262479 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.923T>A (p.Leu308Gln) single nucleotide variant not specified [RCV004505244] Chr5:140883191 [GRCh38]
Chr5:140262776 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1054A>C (p.Ile352Leu) single nucleotide variant not specified [RCV004505218] Chr5:140883322 [GRCh38]
Chr5:140262907 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1073C>A (p.Pro358His) single nucleotide variant not specified [RCV004664332] Chr5:140883341 [GRCh38]
Chr5:140262926 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.469G>C (p.Ala157Pro) single nucleotide variant not specified [RCV004664334] Chr5:140882737 [GRCh38]
Chr5:140262322 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1957G>T (p.Asp653Tyr) single nucleotide variant not specified [RCV004664335] Chr5:140884225 [GRCh38]
Chr5:140263810 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.166C>G (p.Arg56Gly) single nucleotide variant not specified [RCV004664371] Chr5:140927058 [GRCh38]
Chr5:140306643 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1625C>A (p.Pro542Gln) single nucleotide variant not specified [RCV004653094] Chr5:140870728 [GRCh38]
Chr5:140250313 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2290C>G (p.Pro764Ala) single nucleotide variant not specified [RCV004653095] Chr5:140871393 [GRCh38]
Chr5:140250978 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2452G>A (p.Gly818Arg) single nucleotide variant not specified [RCV004664377] Chr5:140969218 [GRCh38]
Chr5:140348803 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1763G>A (p.Gly588Asp) single nucleotide variant not specified [RCV004664330] Chr5:140877235 [GRCh38]
Chr5:140256820 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.812A>C (p.Glu271Ala) single nucleotide variant not specified [RCV004653103] Chr5:140876284 [GRCh38]
Chr5:140255869 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.1924A>G (p.Ile642Val) single nucleotide variant not specified [RCV004664379] Chr5:140968690 [GRCh38]
Chr5:140348275 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1157G>T (p.Cys386Phe) single nucleotide variant not specified [RCV004664327] Chr5:140870260 [GRCh38]
Chr5:140249845 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.89A>G (p.Gln30Arg) single nucleotide variant not specified [RCV004664333] Chr5:140882357 [GRCh38]
Chr5:140261942 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.361G>A (p.Val121Met) single nucleotide variant not specified [RCV004653091] Chr5:140869464 [GRCh38]
Chr5:140249049 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.535G>A (p.Glu179Lys) single nucleotide variant not specified [RCV004653102] Chr5:140876007 [GRCh38]
Chr5:140255592 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1328T>G (p.Val443Gly) single nucleotide variant not specified [RCV004653105] Chr5:140883596 [GRCh38]
Chr5:140263181 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.880C>A (p.Gln294Lys) single nucleotide variant not specified [RCV004653147] Chr5:140927772 [GRCh38]
Chr5:140307357 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1028T>C (p.Leu343Pro) single nucleotide variant not specified [RCV004653150] Chr5:140927920 [GRCh38]
Chr5:140307505 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2285A>G (p.Asn762Ser) single nucleotide variant not specified [RCV004653152] Chr5:140969051 [GRCh38]
Chr5:140348636 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.906C>G (p.Asp302Glu) single nucleotide variant not specified [RCV004664378] Chr5:140967672 [GRCh38]
Chr5:140347257 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.767A>C (p.Gln256Pro) single nucleotide variant not specified [RCV004664375] Chr5:140927659 [GRCh38]
Chr5:140307244 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.2284G>A (p.Gly762Ser) single nucleotide variant not specified [RCV004653092] Chr5:140871387 [GRCh38]
Chr5:140250972 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.52C>T (p.Leu18Phe) single nucleotide variant not specified [RCV004653104] Chr5:140882320 [GRCh38]
Chr5:140261905 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1411T>C (p.Cys471Arg) single nucleotide variant not specified [RCV004653093] Chr5:140870514 [GRCh38]
Chr5:140250099 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1218G>C (p.Leu406Phe) single nucleotide variant not specified [RCV004653096] Chr5:140870321 [GRCh38]
Chr5:140249906 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.968T>C (p.Ile323Thr) single nucleotide variant not specified [RCV004653101] Chr5:140876440 [GRCh38]
Chr5:140256025 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1181C>G (p.Pro394Arg) single nucleotide variant not specified [RCV004653106] Chr5:140883449 [GRCh38]
Chr5:140263034 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.2023G>A (p.Ala675Thr) single nucleotide variant not specified [RCV004653151] Chr5:140968789 [GRCh38]
Chr5:140348374 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018899.6(PCDHAC2):c.96G>C (p.Leu32Phe) single nucleotide variant not specified [RCV004653153] Chr5:140966862 [GRCh38]
Chr5:140346447 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1864C>T (p.Arg622Cys) single nucleotide variant not specified [RCV004653148] Chr5:140928756 [GRCh38]
Chr5:140308341 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.1504G>T (p.Ala502Ser) single nucleotide variant not specified [RCV004664324] Chr5:140870607 [GRCh38]
Chr5:140250192 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.569T>A (p.Ile190Lys) single nucleotide variant not specified [RCV004664329] Chr5:140876041 [GRCh38]
Chr5:140255626 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018904.3(PCDHA13):c.1273G>T (p.Val425Leu) single nucleotide variant not specified [RCV004664331] Chr5:140883541 [GRCh38]
Chr5:140263126 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.2054T>C (p.Val685Ala) single nucleotide variant not specified [RCV004664372] Chr5:140928946 [GRCh38]
Chr5:140308531 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1648G>T (p.Asp550Tyr) single nucleotide variant not specified [RCV004664374] Chr5:140928540 [GRCh38]
Chr5:140308125 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.380G>A (p.Gly127Asp) single nucleotide variant not specified [RCV004664373] Chr5:140927272 [GRCh38]
Chr5:140306857 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.567T>A (p.Ser189Arg) single nucleotide variant not specified [RCV004653100] Chr5:140876039 [GRCh38]
Chr5:140255624 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1898G>T (p.Arg633Met) single nucleotide variant not specified [RCV004653149] Chr5:140928790 [GRCh38]
Chr5:140308375 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018902.5(PCDHA11):c.392C>T (p.Pro131Leu) single nucleotide variant not specified [RCV004664325] Chr5:140869495 [GRCh38]
Chr5:140249080 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.1396G>C (p.Glu466Gln) single nucleotide variant not specified [RCV004653097] Chr5:140876868 [GRCh38]
Chr5:140256453 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.37C>A (p.Arg13Ser) single nucleotide variant not specified [RCV004653098] Chr5:140875509 [GRCh38]
Chr5:140255094 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.565A>G (p.Ser189Gly) single nucleotide variant not specified [RCV004653099] Chr5:140876037 [GRCh38]
Chr5:140255622 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018898.5(PCDHAC1):c.1026C>A (p.Phe342Leu) single nucleotide variant not specified [RCV004653146] Chr5:140927918 [GRCh38]
Chr5:140307503 [GRCh37]
Chr5:5q31.3		 likely benign
NM_018899.6(PCDHAC2):c.2428A>G (p.Asn810Asp) single nucleotide variant not specified [RCV004664376] Chr5:140969194 [GRCh38]
Chr5:140348779 [GRCh37]
Chr5:5q31.3		 uncertain significance
NM_018903.4(PCDHA12):c.611A>C (p.Gln204Pro) single nucleotide variant PCDHA12-related condition [RCV004732226] Chr5:140876083 [GRCh38]
Chr5:140255668 [GRCh37]
Chr5:5q31.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1146
Count of miRNA genes:690
Interacting mature miRNAs:825
Transcripts:ENST00000398640
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597494605GWAS1590679_Hsystolic blood pressure QTL GWAS1590679 (human)3e-09systolic blood pressuresystolic blood pressure (CMO:0000004)5140928384140928385Human
597512317GWAS1608391_Hsystolic blood pressure QTL GWAS1608391 (human)1e-11systolic blood pressuresystolic blood pressure (CMO:0000004)5140928384140928385Human
597404363GWAS1500437_Hvital capacity QTL GWAS1500437 (human)7e-10vital capacity5140937818140937819Human
597490077GWAS1586151_Hpulse pressure measurement QTL GWAS1586151 (human)2e-12pulse pressure measurementpulse pressure (CMO:0000292)5140928384140928385Human
597408810GWAS1504884_Hschizophrenia QTL GWAS1504884 (human)5e-10schizophrenia5140954367140954368Human
1357314AASTH54_HAllergic/atopic asthma related QTL 54 (human)3.560.0003Reversible airflow obstructiontotal serum IgE5135892246150155845Human
597413949GWAS1510023_HAbnormality of refraction QTL GWAS1510023 (human)2e-14Abnormality of refraction5140937786140937787Human
597442294GWAS1538368_H1,5 anhydroglucitol measurement QTL GWAS1538368 (human)0.0000041,5 anhydroglucitol measurement5140929096140929097Human
597489431GWAS1585505_Hpulse pressure measurement QTL GWAS1585505 (human)6e-10pulse pressure measurementpulse pressure (CMO:0000292)5140928384140928385Human
597361799GWAS1457873_Hneutrophil count, basophil count QTL GWAS1457873 (human)4e-09basophil quantity (VT:0002607)blood basophil count (CMO:0000034)5140904631140904632Human
597374455GWAS1470529_Hvisceral adipose tissue measurement, body mass index QTL GWAS1470529 (human)0.000003visceral adipose tissue measurement, body mass indexbody mass index (BMI) (CMO:0000105)5140992637140992638Human

Markers in Region
D5S658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,372,916 - 140,373,189UniSTSGRCh37
Build 365140,353,100 - 140,353,373RGDNCBI36
Celera5136,449,700 - 136,449,973RGD
Cytogenetic Map5q31UniSTS
HuRef5135,517,629 - 135,517,894UniSTS
Marshfield Genetic Map5142.92RGD
Marshfield Genetic Map5142.92UniSTS
Genethon Genetic Map5142.6UniSTS
Whitehead-RH Map5441.7UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5889.1UniSTS
RH91795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,389,215 - 140,389,359UniSTSGRCh37
Build 365140,369,399 - 140,369,543RGDNCBI36
Celera5136,465,994 - 136,466,138RGD
Cytogenetic Map5q31UniSTS
HuRef5135,533,914 - 135,534,058UniSTS
GeneMap99-GB4 RH Map5530.5UniSTS
RH122893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,344,075 - 140,344,397UniSTSGRCh37
Build 365140,324,259 - 140,324,581RGDNCBI36
Celera5136,420,859 - 136,421,181RGD
Cytogenetic Map5q31UniSTS
HuRef5135,488,790 - 135,489,112UniSTS
TNG Radiation Hybrid Map565054.0UniSTS
RH118816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,365,779 - 140,366,073UniSTSGRCh37
Build 365140,345,963 - 140,346,257RGDNCBI36
Celera5136,442,563 - 136,442,857RGD
Cytogenetic Map5q31UniSTS
HuRef5135,510,494 - 135,510,788UniSTS
TNG Radiation Hybrid Map565069.0UniSTS
D5S1683E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,390,021 - 140,390,212UniSTSGRCh37
Build 365140,370,205 - 140,370,396RGDNCBI36
Celera5136,466,800 - 136,466,991RGD
Cytogenetic Map5q31UniSTS
HuRef5135,534,720 - 135,534,911UniSTS
SHGC-150174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,372,907 - 140,373,191UniSTSGRCh37
Build 365140,353,091 - 140,353,375RGDNCBI36
Celera5136,449,691 - 136,449,975RGD
Cytogenetic Map5q31UniSTS
HuRef5135,517,620 - 135,517,896UniSTS
TNG Radiation Hybrid Map565089.0UniSTS
TNG Radiation Hybrid Map174062.0UniSTS
bac5366T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,362,911 - 140,363,118UniSTSGRCh37
Build 365140,343,095 - 140,343,302RGDNCBI36
Celera5136,439,695 - 136,439,902RGD
Cytogenetic Map5q31UniSTS
HuRef5135,507,626 - 135,507,833UniSTS
bac5373T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,363,259 - 140,363,393UniSTSGRCh37
Build 365140,343,443 - 140,343,577RGDNCBI36
Celera5136,440,043 - 136,440,177RGD
Cytogenetic Map5q31UniSTS
HuRef5135,507,974 - 135,508,108UniSTS
PMC311048P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,362,060 - 140,362,148UniSTSGRCh37
Build 365140,342,244 - 140,342,332RGDNCBI36
Celera5136,438,844 - 136,438,932RGD
HuRef5135,506,775 - 135,506,863UniSTS
PCDHA4_1031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,390,470 - 140,391,194UniSTSGRCh37
Build 365140,370,654 - 140,371,378RGDNCBI36
Celera5136,467,249 - 136,467,973RGD
HuRef5135,535,169 - 135,535,893UniSTS
A004B11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,307,787 - 140,307,943UniSTSGRCh37
Build 365140,287,971 - 140,288,127RGDNCBI36
Celera5136,384,600 - 136,384,756RGD
Cytogenetic Map5q31UniSTS
HuRef5135,452,522 - 135,452,678UniSTS
GeneMap99-GB4 RH Map5531.62UniSTS
NCBI RH Map5889.1UniSTS
RH15971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,390,200 - 140,390,359UniSTSGRCh37
Build 365140,370,384 - 140,370,543RGDNCBI36
Celera5136,466,979 - 136,467,138RGD
Cytogenetic Map5q31UniSTS
HuRef5135,534,899 - 135,535,058UniSTS
GeneMap99-GB4 RH Map5531.42UniSTS
NCBI RH Map5889.1UniSTS
IB766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,391,639 - 140,391,867UniSTSGRCh37
Build 365140,371,823 - 140,372,051RGDNCBI36
Celera5136,468,418 - 136,468,646RGD
Cytogenetic Map5q31UniSTS
HuRef5135,536,338 - 135,536,566UniSTS
GeneMap99-GB4 RH Map5531.42UniSTS
Whitehead-RH Map5441.7UniSTS
NCBI RH Map5889.1UniSTS
WI-19540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,391,613 - 140,391,874UniSTSGRCh37
Build 365140,371,797 - 140,372,058RGDNCBI36
Celera5136,468,392 - 136,468,653RGD
Cytogenetic Map5q31UniSTS
HuRef5135,536,312 - 135,536,573UniSTS
GeneMap99-GB4 RH Map5531.72UniSTS
Whitehead-RH Map5441.7UniSTS
NCBI RH Map5889.1UniSTS
RH65516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,390,919 - 140,391,093UniSTSGRCh37
Build 365140,371,103 - 140,371,277RGDNCBI36
Celera5136,467,698 - 136,467,872RGD
Cytogenetic Map5q31UniSTS
HuRef5135,535,618 - 135,535,792UniSTS
GeneMap99-GB4 RH Map5527.13UniSTS
NCBI RH Map5889.1UniSTS
PCDHAC1__5835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,308,699 - 140,309,481UniSTSGRCh37
Build 365140,288,883 - 140,289,665RGDNCBI36
Celera5136,385,512 - 136,386,294RGD
HuRef5135,453,434 - 135,454,216UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1053 2046 1831 1225 4542 1465 1983 3 393 570 240 1791 3805 3817 29 3683 1 658 1537 1507 157 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_000016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_050674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_050675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_050677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ007609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX111117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB349483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000398640   ⟹   ENSP00000381636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,868,957 - 141,012,347 (+)Ensembl
Ensembl Acc Id: ENST00000616325   ⟹   ENSP00000482503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,868,183 - 140,871,600 (+)Ensembl
Ensembl Acc Id: ENST00000617408   ⟹   ENSP00000482347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,871,218 - 141,010,338 (+)Ensembl
RefSeq Acc Id: NM_018902   ⟹   NP_061725
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,868,957 - 141,012,347 (+)NCBI
GRCh375140,247,149 - 140,391,932 (+)NCBI
Build 365140,228,015 - 140,372,113 (+)NCBI Archive
Celera5136,324,642 - 136,468,708 (+)RGD
HuRef5135,391,837 - 135,536,628 (+)NCBI
CHM1_15139,680,290 - 139,825,092 (+)NCBI
T2T-CHM13v2.05141,394,282 - 141,537,634 (+)NCBI
Sequence:
RefSeq Acc Id: NM_031861   ⟹   NP_114067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,867,513 - 140,871,600 (+)NCBI
GRCh375140,247,149 - 140,391,932 (+)NCBI
Build 365140,228,015 - 140,231,305 (+)NCBI Archive
Celera5136,324,642 - 136,468,708 (+)RGD
HuRef5135,391,837 - 135,536,628 (+)NCBI
CHM1_15139,680,290 - 139,684,377 (+)NCBI
T2T-CHM13v2.05141,392,838 - 141,396,925 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061725   ⟸   NM_018902
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9Y5I1 (UniProtKB/Swiss-Prot),   B2RN58 (UniProtKB/Swiss-Prot),   O75279 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_114067   ⟸   NM_031861
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9Y5I1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000381636   ⟸   ENST00000398640
Ensembl Acc Id: ENSP00000482503   ⟸   ENST00000616325
Ensembl Acc Id: ENSP00000482347   ⟸   ENST00000617408
Protein Domains
Cadherin   Cadherin C-terminal catenin-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5I1-F1-model_v2 AlphaFold Q9Y5I1 1-949 view protein structure

Promoters
RGD ID:6870904
Promoter ID:EPDNEW_H8616
Type:initiation region
Name:PCDHA11_2
Description:protocadherin alpha 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8617  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,868,957 - 140,869,017EPDNEW
RGD ID:6870906
Promoter ID:EPDNEW_H8617
Type:initiation region
Name:PCDHA11_1
Description:protocadherin alpha 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8616  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,871,198 - 140,871,258EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8665 AgrOrtholog
COSMIC PCDHA11 COSMIC
Ensembl Genes ENSG00000249158 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291662 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000398640 ENTREZGENE
  ENST00000398640.7 UniProtKB/Swiss-Prot
  ENST00000616325 ENTREZGENE
  ENST00000616325.1 UniProtKB/Swiss-Prot
  ENST00000617408.1 UniProtKB/TrEMBL
  ENST00000708317.1 UniProtKB/Swiss-Prot
  ENST00000708318.1 UniProtKB/Swiss-Prot
  ENST00000708319.1 UniProtKB/TrEMBL
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot
GTEx ENSG00000249158 GTEx
  ENSG00000291662 GTEx
HGNC ID HGNC:8665 ENTREZGENE
Human Proteome Map PCDHA11 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot
  Cadherin-like_sf UniProtKB/Swiss-Prot
  Cadherin_CBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot
  Cadherin_N UniProtKB/Swiss-Prot
  Protocadherin/Cadherin-CA UniProtKB/Swiss-Prot
KEGG Report hsa:56138 UniProtKB/Swiss-Prot
NCBI Gene 56138 ENTREZGENE
OMIM 606317 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot
  PROTOCADHERIN ALPHA-11 UniProtKB/Swiss-Prot
Pfam Cadherin UniProtKB/Swiss-Prot
  Cadherin_2 UniProtKB/Swiss-Prot
  Cadherin_tail UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33011 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot
  CADHERIN_2 UniProtKB/Swiss-Prot
SMART SM00112 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot
UniProt A0A087WZ46_HUMAN UniProtKB/TrEMBL
  B2RN58 ENTREZGENE
  O75279 ENTREZGENE
  PCDAB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RN58 UniProtKB/Swiss-Prot
  O75279 UniProtKB/Swiss-Prot