CDH19 (cadherin 19) - Rat Genome Database

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Gene: CDH19 (cadherin 19) Homo sapiens
Analyze
Symbol: CDH19
Name: cadherin 19
RGD ID: 1316200
HGNC Page HGNC:1758
Description: Predicted to enable cadherin binding activity and calcium ion binding activity. Predicted to be involved in several processes, including calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; cell-cell adhesion mediated by cadherin; and cell-cell junction organization. Predicted to be located in plasma membrane. Predicted to be part of catenin complex. Predicted to be active in adherens junction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cadherin 19, type 2; cadherin-19; CDH7; CDH7L2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381866,501,083 - 66,604,090 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1866,501,083 - 66,604,138 (-)EnsemblGRCh38hg38GRCh38
GRCh371864,168,320 - 64,271,327 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361862,322,301 - 62,422,196 (-)NCBINCBI36Build 36hg18NCBI36
Build 341862,322,300 - 62,422,196NCBI
Celera1860,889,278 - 60,989,190 (-)NCBICelera
Cytogenetic Map18q22.1NCBI
HuRef1860,868,984 - 60,971,955 (-)NCBIHuRef
CHM1_11864,163,645 - 64,266,628 (-)NCBICHM1_1
T2T-CHM13v2.01866,699,077 - 66,802,147 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7566098   PMID:9615235   PMID:10995570   PMID:12118382   PMID:12477932   PMID:12975309   PMID:18184143   PMID:18364357   PMID:20358601   PMID:21873635   PMID:25189868   PMID:25361488  
PMID:26354767   PMID:28514442   PMID:29987050   PMID:30021884   PMID:31586073   PMID:33961781   PMID:38052007  


Genomics

Comparative Map Data
CDH19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381866,501,083 - 66,604,090 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1866,501,083 - 66,604,138 (-)EnsemblGRCh38hg38GRCh38
GRCh371864,168,320 - 64,271,327 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361862,322,301 - 62,422,196 (-)NCBINCBI36Build 36hg18NCBI36
Build 341862,322,300 - 62,422,196NCBI
Celera1860,889,278 - 60,989,190 (-)NCBICelera
Cytogenetic Map18q22.1NCBI
HuRef1860,868,984 - 60,971,955 (-)NCBIHuRef
CHM1_11864,163,645 - 64,266,628 (-)NCBICHM1_1
T2T-CHM13v2.01866,699,077 - 66,802,147 (-)NCBIT2T-CHM13v2.0
Cdh19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391110,811,802 - 110,905,331 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1110,816,056 - 110,905,314 (-)EnsemblGRCm39 Ensembl
GRCm381110,888,002 - 110,977,601 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1110,888,326 - 110,977,584 (-)EnsemblGRCm38mm10GRCm38
MGSCv371112,785,772 - 112,873,949 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361112,716,742 - 112,804,919 (-)NCBIMGSCv36mm8
Celera1113,646,024 - 113,729,311 (-)NCBICelera
Cytogenetic Map1E2.1NCBI
cM Map150.78NCBI
Cdh19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81328,450,361 - 28,561,932 (-)NCBIGRCr8
mRatBN7.21327,935,915 - 28,047,490 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1327,936,668 - 28,019,310 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1328,329,664 - 28,411,052 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01329,614,185 - 29,695,576 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01328,262,267 - 28,343,715 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01332,344,954 - 32,469,887 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1332,344,966 - 32,427,177 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01337,482,078 - 37,607,514 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41318,148,715 - 18,230,353 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11318,151,455 - 18,233,094 (-)NCBI
Celera1327,679,457 - 27,760,138 (-)NCBICelera
Cytogenetic Map13q11NCBI
Cdh19
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540250,112,516 - 50,213,896 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540250,110,907 - 50,213,882 (-)NCBIChiLan1.0ChiLan1.0
CDH19
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21784,005,355 - 84,107,699 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11869,697,969 - 69,800,300 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01859,852,350 - 59,954,744 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11863,156,263 - 63,258,546 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1863,156,263 - 63,258,767 (-)Ensemblpanpan1.1panPan2
CDH19
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1111,074,216 - 11,168,816 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl111,074,305 - 11,165,626 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha112,099,395 - 12,193,906 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0110,925,758 - 11,020,339 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl110,925,808 - 11,020,334 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1110,957,834 - 11,052,271 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0110,899,197 - 10,994,210 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0111,144,592 - 11,239,098 (+)NCBIUU_Cfam_GSD_1.0
Cdh19
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494424,452,037 - 24,483,848 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049381822,674 - 13,253 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDH19
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1155,669,420 - 155,758,548 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11155,669,361 - 155,758,550 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21172,916,611 - 173,006,358 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDH19
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11813,155,504 - 13,256,781 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1813,187,487 - 13,256,691 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606012,513,300 - 12,621,161 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cdh19
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479212,635,240 - 12,752,439 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479212,633,803 - 12,752,267 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CDH19
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1 copy number loss See cases [RCV000050985] Chr18:64950938..80252149 [GRCh38]
Chr18:62618174..78010032 [GRCh37]
Chr18:60769154..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q22.1(chr18:66242508-66790270)x1 copy number loss See cases [RCV000051169] Chr18:66242508..66790270 [GRCh38]
Chr18:63909745..64457507 [GRCh37]
Chr18:62060725..62608487 [NCBI36]
Chr18:18q22.1		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1(chr18:65192460-68134827)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052079]|See cases [RCV000052079] Chr18:65192460..68134827 [GRCh38]
Chr18:62859696..65802064 [GRCh37]
Chr18:61010676..63953044 [NCBI36]
Chr18:18q22.1		 uncertain significance
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 copy number gain See cases [RCV000052572] Chr18:63195579..80234429 [GRCh38]
Chr18:60862812..77992312 [GRCh37]
Chr18:59013792..76093303 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3 copy number gain See cases [RCV000052573] Chr18:64747528..80252290 [GRCh38]
Chr18:62414764..78010173 [GRCh37]
Chr18:60565744..76111164 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 copy number loss See cases [RCV000053875] Chr18:62999696..80209986 [GRCh38]
Chr18:60666929..77967869 [GRCh37]
Chr18:58817909..76068860 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1 copy number loss See cases [RCV000053876] Chr18:63988650..80252149 [GRCh38]
Chr18:61655884..78010032 [GRCh37]
Chr18:59806864..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
NM_021153.3(CDH19):c.1794C>T (p.Ile598=) single nucleotide variant Malignant melanoma [RCV000063408] Chr18:66509029 [GRCh38]
Chr18:64176266 [GRCh37]
Chr18:62327246 [NCBI36]
Chr18:18q22.1		 not provided
NM_001271028.1(CDH19):c.-113+9505G>T single nucleotide variant Lung cancer [RCV000100945] Chr18:66594449 [GRCh38]
Chr18:64261686 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1(chr18:66558715-67132031)x1 copy number loss See cases [RCV000134914] Chr18:66558715..67132031 [GRCh38]
Chr18:64225952..64799268 [GRCh37]
Chr18:62376932..62950248 [NCBI36]
Chr18:18q22.1		 uncertain significance
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 copy number loss See cases [RCV000135838] Chr18:63306200..80252149 [GRCh38]
Chr18:60973433..78010032 [GRCh37]
Chr18:59124413..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-22.1(chr18:63846473-66558774)x1 copy number loss See cases [RCV000135443] Chr18:63846473..66558774 [GRCh38]
Chr18:61513707..64226011 [GRCh37]
Chr18:59664687..62376991 [NCBI36]
Chr18:18q21.33-22.1		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 copy number loss See cases [RCV000135616] Chr18:61576009..80252149 [GRCh38]
Chr18:59243242..78010032 [GRCh37]
Chr18:57394222..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1 copy number loss See cases [RCV000135567] Chr18:61827111..80252149 [GRCh38]
Chr18:59494344..78010032 [GRCh37]
Chr18:57645324..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic|uncertain significance
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1 copy number loss See cases [RCV000136911] Chr18:65693588..80252149 [GRCh38]
Chr18:63360824..78010032 [GRCh37]
Chr18:61511804..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1 copy number loss See cases [RCV000137598] Chr18:65658824..80254946 [GRCh38]
Chr18:63326060..78012829 [GRCh37]
Chr18:61477040..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1 copy number loss See cases [RCV000137808] Chr18:66190016..80254946 [GRCh38]
Chr18:63857253..78012829 [GRCh37]
Chr18:62008233..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1 copy number loss See cases [RCV000138707] Chr18:64747728..80254946 [GRCh38]
Chr18:62414964..78012829 [GRCh37]
Chr18:60565944..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1 copy number loss See cases [RCV000139464] Chr18:63756916..80254946 [GRCh38]
Chr18:61424150..78012829 [GRCh37]
Chr18:59575130..76113817 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 copy number loss See cases [RCV000141429] Chr18:61613338..80252090 [GRCh38]
Chr18:59280571..78009973 [GRCh37]
Chr18:57431551..76110964 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1(chr18:66437554-66649096)x1 copy number loss See cases [RCV000141362] Chr18:66437554..66649096 [GRCh38]
Chr18:64104791..64316333 [GRCh37]
Chr18:62255771..62467313 [NCBI36]
Chr18:18q22.1		 uncertain significance
GRCh38/hg38 18q22.1(chr18:66379346-67471172)x3 copy number gain See cases [RCV000140917] Chr18:66379346..67471172 [GRCh38]
Chr18:64046583..65138409 [GRCh37]
Chr18:62197563..63289389 [NCBI36]
Chr18:18q22.1		 likely benign|uncertain significance
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.33-22.1(chr18:63819028-66637566)x1 copy number loss See cases [RCV000141990] Chr18:63819028..66637566 [GRCh38]
Chr18:61486262..64304803 [GRCh37]
Chr18:59637242..62455783 [NCBI36]
Chr18:18q21.33-22.1		 uncertain significance
GRCh38/hg38 18q22.1(chr18:66417411-66663016)x1 copy number loss See cases [RCV000141910] Chr18:66417411..66663016 [GRCh38]
Chr18:64084648..64330253 [GRCh37]
Chr18:62235628..62481233 [NCBI36]
Chr18:18q22.1		 likely benign|uncertain significance
GRCh38/hg38 18q22.1(chr18:66594541-66837317)x1 copy number loss See cases [RCV000141781] Chr18:66594541..66837317 [GRCh38]
Chr18:64261778..64504554 [GRCh37]
Chr18:62412758..62655534 [NCBI36]
Chr18:18q22.1		 likely benign|uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1 copy number loss See cases [RCV000142176] Chr18:66456349..80256240 [GRCh38]
Chr18:64123586..78014123 [GRCh37]
Chr18:62274566..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1(chr18:66242392-66790287)x1 copy number loss See cases [RCV000142825] Chr18:66242392..66790287 [GRCh38]
Chr18:63909629..64457524 [GRCh37]
Chr18:62060609..62608504 [NCBI36]
Chr18:18q22.1		 likely benign
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3 copy number gain See cases [RCV000143195] Chr18:59909593..72609801 [GRCh38]
Chr18:57576825..70277036 [GRCh37]
Chr18:55727805..68428016 [NCBI36]
Chr18:18q21.32-22.3		 likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1(chr18:66419523-66667666)x1 copy number loss Premature ovarian failure [RCV000225170] Chr18:66419523..66667666 [GRCh38]
Chr18:64086760..64334903 [GRCh37]
Chr18:18q22.1		 benign
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1 copy number loss See cases [RCV000240432] Chr18:58014591..68158862 [GRCh37]
Chr18:18q21.32-22.2		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1 copy number loss not provided [RCV000416006] Chr18:59461447..78010032 [GRCh37]
Chr18:18q21.33-23		 likely pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1 copy number loss See cases [RCV000449163] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1(chr18:63486106-64371718)x1 copy number loss See cases [RCV000446828] Chr18:63486106..64371718 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q22.1(chr18:64123297-64316333)x1 copy number loss See cases [RCV000446342] Chr18:64123297..64316333 [GRCh37]
Chr18:18q22.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.1(chr18:61950936-64771996)x3 copy number gain See cases [RCV000446529] Chr18:61950936..64771996 [GRCh37]
Chr18:18q22.1		 likely benign
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1 copy number loss See cases [RCV000447127] Chr18:60641553..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1 copy number loss See cases [RCV000446171] Chr18:60796196..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1 copy number loss See cases [RCV000510685] Chr18:59809990..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.1(chr18:64252800-64495798)x1 copy number loss See cases [RCV000511214] Chr18:64252800..64495798 [GRCh37]
Chr18:18q22.1		 likely benign
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1 copy number loss See cases [RCV000511105] Chr18:59876469..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1 copy number loss See cases [RCV000515583] Chr18:61802304..78015180 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_021153.4(CDH19):c.388C>A (p.Pro130Thr) single nucleotide variant not specified [RCV004325769] Chr18:66568518 [GRCh38]
Chr18:64235755 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1148C>G (p.Thr383Ser) single nucleotide variant not specified [RCV004315664] Chr18:66544037 [GRCh38]
Chr18:64211274 [GRCh37]
Chr18:18q22.1		 likely benign
NM_021153.4(CDH19):c.1457A>G (p.Gln486Arg) single nucleotide variant not specified [RCV004294037] Chr18:66529846 [GRCh38]
Chr18:64197083 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q22.1(chr18:63998154-64504466)x1 copy number loss See cases [RCV000512258] Chr18:63998154..64504466 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1 copy number loss See cases [RCV000512607] Chr18:61673145..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1 copy number loss See cases [RCV000512579] Chr18:58768873..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q22.1(chr18:63727661-64556147)x4 copy number gain not provided [RCV000684011] Chr18:63727661..64556147 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q22.1(chr18:64270778-66179072)x3 copy number gain not provided [RCV000684028] Chr18:64270778..66179072 [GRCh37]
Chr18:18q22.1		 likely benign
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1 copy number loss not provided [RCV000684055] Chr18:60416709..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.33-22.1(chr18:61486262-64304803)x1 copy number loss not provided [RCV000684033] Chr18:61486262..64304803 [GRCh37]
Chr18:18q21.33-22.1		 uncertain significance
GRCh37/hg19 18q22.1(chr18:62101074-65457084)x3 copy number gain not provided [RCV000684037] Chr18:62101074..65457084 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1(chr18:64219775-64223672)x1 copy number loss not provided [RCV000739849] Chr18:64219775..64223672 [GRCh37]
Chr18:18q22.1		 benign
GRCh37/hg19 18q22.1-23(chr18:64232938-75262263)x1 copy number loss not provided [RCV000739850] Chr18:64232938..75262263 [GRCh37]
Chr18:18q22.1-23		 benign
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1 copy number loss not provided [RCV001007019] Chr18:60098018..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1 copy number loss not provided [RCV000752366] Chr18:59585959..78015180 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1(chr18:63769833-64218839)x1 copy number loss not provided [RCV000752373] Chr18:63769833..64218839 [GRCh37]
Chr18:18q22.1		 benign
GRCh37/hg19 18q22.1(chr18:64130436-64240852)x3 copy number gain not provided [RCV000752378] Chr18:64130436..64240852 [GRCh37]
Chr18:18q22.1		 benign
GRCh37/hg19 18q22.1(chr18:64132620-64220890)x3 copy number gain not provided [RCV000752379] Chr18:64132620..64220890 [GRCh37]
Chr18:18q22.1		 benign
GRCh37/hg19 18q22.1(chr18:64132837-64279843)x3 copy number gain not provided [RCV000752380] Chr18:64132837..64279843 [GRCh37]
Chr18:18q22.1		 benign
GRCh37/hg19 18q22.1(chr18:64132837-64295346)x3 copy number gain not provided [RCV000752381] Chr18:64132837..64295346 [GRCh37]
Chr18:18q22.1		 benign
GRCh37/hg19 18q22.1(chr18:64148687-64197289)x1 copy number loss not provided [RCV000752382] Chr18:64148687..64197289 [GRCh37]
Chr18:18q22.1		 benign
GRCh37/hg19 18q22.1(chr18:64171322-64279843)x3 copy number gain not provided [RCV000752383] Chr18:64171322..64279843 [GRCh37]
Chr18:18q22.1		 benign
NM_021153.4(CDH19):c.1674G>A (p.Pro558=) single nucleotide variant CDH19-related condition [RCV003933285]|not provided [RCV000949832] Chr18:66509149 [GRCh38]
Chr18:64176386 [GRCh37]
Chr18:18q22.1		 benign|likely benign
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_021153.4(CDH19):c.977A>C (p.His326Pro) single nucleotide variant CDH19-related condition [RCV003967965]|not provided [RCV000879729] Chr18:66544208 [GRCh38]
Chr18:64211445 [GRCh37]
Chr18:18q22.1		 likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787397] Chr18:62984563..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1 copy number loss not provided [RCV001007020] Chr18:63247046..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1(chr18:62772720-64278186)x3 copy number gain not provided [RCV001006989] Chr18:62772720..64278186 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q22.1-22.3(chr18:63585740-70885038)x3 copy number gain not provided [RCV001007002] Chr18:63585740..70885038 [GRCh37]
Chr18:18q22.1-22.3		 likely pathogenic
GRCh37/hg19 18q22.1-22.2(chr18:62621671-68276973)x1 copy number loss not provided [RCV001006998] Chr18:62621671..68276973 [GRCh37]
Chr18:18q22.1-22.2		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:61994711-74293556)x1 copy number loss not provided [RCV001007010] Chr18:61994711..74293556 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_021153.4(CDH19):c.981G>C (p.Gln327His) single nucleotide variant not specified [RCV004319300] Chr18:66544204 [GRCh38]
Chr18:64211441 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.266C>T (p.Thr89Ile) single nucleotide variant CDH19-related condition [RCV003926160]|not provided [RCV000961551] Chr18:66568640 [GRCh38]
Chr18:64235877 [GRCh37]
Chr18:18q22.1		 benign
GRCh37/hg19 18q22.1-22.2(chr18:63826068-67913864)x1 copy number loss not provided [RCV002472629] Chr18:63826068..67913864 [GRCh37]
Chr18:18q22.1-22.2		 uncertain significance
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q22.1(chr18:63819423-66230957)x1 copy number loss not provided [RCV001006993] Chr18:63819423..66230957 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q22.1(chr18:63057625-66617881)x3 copy number gain not provided [RCV001259357] Chr18:63057625..66617881 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3 copy number gain not provided [RCV001259360] Chr18:63747519..78014123 [GRCh37]
Chr18:18q22.1-23		 likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.1(chr18:64271113-66179072)x4 copy number gain not provided [RCV001258878] Chr18:64271113..66179072 [GRCh37]
Chr18:18q22.1		 likely benign
GRCh37/hg19 18q22.1(chr18:64143273-64202811)x1 copy number loss not provided [RCV001258880] Chr18:64143273..64202811 [GRCh37]
Chr18:18q22.1		 likely benign
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV002280357] Chr18:61490305..80247612 [GRCh38]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123) copy number loss not specified [RCV002052647] Chr18:58305972..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123) copy number loss not specified [RCV002052649] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.1(chr18:64270518-66179072)x3 copy number gain not provided [RCV001829097] Chr18:64270518..66179072 [GRCh37]
Chr18:18q22.1		 likely benign
GRCh37/hg19 18q22.1(chr18:63892042-64657862) copy number loss not specified [RCV002052651] Chr18:63892042..64657862 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV002280712] Chr18:61289055..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
NM_021153.4(CDH19):c.553C>T (p.Arg185Cys) single nucleotide variant not specified [RCV004295285] Chr18:66554462 [GRCh38]
Chr18:64221699 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1 copy number loss not provided [RCV002472513] Chr18:61520071..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.33-22.1(chr18:61483089-64304841)x1 copy number loss not provided [RCV002473560] Chr18:61483089..64304841 [GRCh37]
Chr18:18q21.33-22.1		 uncertain significance
NM_021153.4(CDH19):c.2207T>C (p.Leu736Ser) single nucleotide variant not specified [RCV004133100] Chr18:66504924 [GRCh38]
Chr18:64172161 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.213C>A (p.Asp71Glu) single nucleotide variant not specified [RCV004238347] Chr18:66568693 [GRCh38]
Chr18:64235930 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.141G>C (p.Trp47Cys) single nucleotide variant not specified [RCV004233773] Chr18:66572064 [GRCh38]
Chr18:64239301 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.2254G>A (p.Glu752Lys) single nucleotide variant not specified [RCV004136139] Chr18:66504877 [GRCh38]
Chr18:64172114 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1358C>T (p.Ser453Leu) single nucleotide variant not specified [RCV004084702] Chr18:66529945 [GRCh38]
Chr18:64197182 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q22.1(chr18:62201144-66432957)x1 copy number loss not provided [RCV002475707] Chr18:62201144..66432957 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1870C>A (p.Gln624Lys) single nucleotide variant not specified [RCV004156740] Chr18:66505261 [GRCh38]
Chr18:64172498 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.352C>A (p.Gln118Lys) single nucleotide variant not specified [RCV004214007] Chr18:66568554 [GRCh38]
Chr18:64235791 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1803T>G (p.Ile601Met) single nucleotide variant not specified [RCV004114203] Chr18:66509020 [GRCh38]
Chr18:64176257 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.587A>G (p.Tyr196Cys) single nucleotide variant not specified [RCV004123719] Chr18:66554428 [GRCh38]
Chr18:64221665 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1775G>C (p.Gly592Ala) single nucleotide variant not specified [RCV004158190] Chr18:66509048 [GRCh38]
Chr18:64176285 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.927T>A (p.His309Gln) single nucleotide variant not specified [RCV004143616] Chr18:66544752 [GRCh38]
Chr18:64211989 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1070T>C (p.Ile357Thr) single nucleotide variant not specified [RCV004163787] Chr18:66544115 [GRCh38]
Chr18:64211352 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1718G>A (p.Cys573Tyr) single nucleotide variant not specified [RCV004242928] Chr18:66509105 [GRCh38]
Chr18:64176342 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.353A>G (p.Gln118Arg) single nucleotide variant not specified [RCV004247133] Chr18:66568553 [GRCh38]
Chr18:64235790 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.733A>G (p.Lys245Glu) single nucleotide variant not specified [RCV004083326] Chr18:66551136 [GRCh38]
Chr18:64218373 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.577G>A (p.Gly193Ser) single nucleotide variant not specified [RCV004247233] Chr18:66554438 [GRCh38]
Chr18:64221675 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1862G>A (p.Arg621Gln) single nucleotide variant not specified [RCV004200432] Chr18:66505269 [GRCh38]
Chr18:64172506 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.772G>A (p.Glu258Lys) single nucleotide variant not specified [RCV004177258] Chr18:66551097 [GRCh38]
Chr18:64218334 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1696C>T (p.Leu566Phe) single nucleotide variant not specified [RCV004149958] Chr18:66509127 [GRCh38]
Chr18:64176364 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.932C>G (p.Thr311Ser) single nucleotide variant not specified [RCV004159594] Chr18:66544747 [GRCh38]
Chr18:64211984 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.263G>C (p.Ser88Thr) single nucleotide variant not specified [RCV004140958] Chr18:66568643 [GRCh38]
Chr18:64235880 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1232G>A (p.Ser411Asn) single nucleotide variant not specified [RCV004149904] Chr18:66535090 [GRCh38]
Chr18:64202327 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1543A>T (p.Asn515Tyr) single nucleotide variant not specified [RCV004160832] Chr18:66511601 [GRCh38]
Chr18:64178838 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1631C>T (p.Pro544Leu) single nucleotide variant not specified [RCV004255474] Chr18:66509192 [GRCh38]
Chr18:64176429 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1909A>G (p.Asn637Asp) single nucleotide variant not specified [RCV004285223] Chr18:66505222 [GRCh38]
Chr18:64172459 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.823A>C (p.Ile275Leu) single nucleotide variant not specified [RCV004277117] Chr18:66544856 [GRCh38]
Chr18:64212093 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.2062G>A (p.Val688Ile) single nucleotide variant not specified [RCV004273356] Chr18:66505069 [GRCh38]
Chr18:64172306 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1 copy number loss not provided [RCV003326989] Chr18:63476940..77960815 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_021153.4(CDH19):c.1058C>T (p.Ser353Phe) single nucleotide variant not specified [RCV004363257] Chr18:66544127 [GRCh38]
Chr18:64211364 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.331T>C (p.Ser111Pro) single nucleotide variant not specified [RCV004360327] Chr18:66568575 [GRCh38]
Chr18:64235812 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.215A>G (p.Asn72Ser) single nucleotide variant not specified [RCV004365802] Chr18:66568691 [GRCh38]
Chr18:64235928 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.704C>T (p.Ala235Val) single nucleotide variant not specified [RCV004357291] Chr18:66551165 [GRCh38]
Chr18:64218402 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1133A>C (p.Glu378Ala) single nucleotide variant not specified [RCV004346112] Chr18:66544052 [GRCh38]
Chr18:64211289 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q22.1-22.3(chr18:64152677-69191894)x1 copy number loss not provided [RCV003483342] Chr18:64152677..69191894 [GRCh37]
Chr18:18q22.1-22.3		 uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1 copy number loss not provided [RCV003483341] Chr18:60771809..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
NM_021153.4(CDH19):c.579C>T (p.Gly193=) single nucleotide variant CDH19-related condition [RCV003393231] Chr18:66554436 [GRCh38]
Chr18:64221673 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3 copy number gain not specified [RCV003986100] Chr18:58508272..70495604 [GRCh37]
Chr18:18q21.32-22.3		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1 copy number loss not specified [RCV003987279] Chr18:63427506..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1(chr18:64079710-64330253)x1 copy number loss not specified [RCV003987284] Chr18:64079710..64330253 [GRCh37]
Chr18:18q22.1		 uncertain significance
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_021153.4(CDH19):c.490+10A>G single nucleotide variant CDH19-related condition [RCV003906911] Chr18:66568406 [GRCh38]
Chr18:64235643 [GRCh37]
Chr18:18q22.1		 likely benign
NM_021153.4(CDH19):c.1222A>G (p.Ile408Val) single nucleotide variant CDH19-related condition [RCV003927231] Chr18:66535100 [GRCh38]
Chr18:64202337 [GRCh37]
Chr18:18q22.1		 likely benign
NM_021153.4(CDH19):c.1936G>A (p.Gly646Ser) single nucleotide variant CDH19-related condition [RCV003919461] Chr18:66505195 [GRCh38]
Chr18:64172432 [GRCh37]
Chr18:18q22.1		 likely benign
NM_021153.4(CDH19):c.55T>A (p.Cys19Ser) single nucleotide variant CDH19-related condition [RCV003906769] Chr18:66572150 [GRCh38]
Chr18:64239387 [GRCh37]
Chr18:18q22.1		 benign
NM_021153.4(CDH19):c.501T>C (p.Val167=) single nucleotide variant CDH19-related condition [RCV003924710] Chr18:66554514 [GRCh38]
Chr18:64221751 [GRCh37]
Chr18:18q22.1		 benign
NM_021153.4(CDH19):c.564C>T (p.Tyr188=) single nucleotide variant CDH19-related condition [RCV003937176] Chr18:66554451 [GRCh38]
Chr18:64221688 [GRCh37]
Chr18:18q22.1		 benign
NM_021153.4(CDH19):c.1958C>A (p.Ala653Asp) single nucleotide variant CDH19-related condition [RCV003964358] Chr18:66505173 [GRCh38]
Chr18:64172410 [GRCh37]
Chr18:18q22.1		 benign
NM_021153.4(CDH19):c.1791C>T (p.Val597=) single nucleotide variant CDH19-related condition [RCV003974418] Chr18:66509032 [GRCh38]
Chr18:64176269 [GRCh37]
Chr18:18q22.1		 benign
NM_021153.4(CDH19):c.2134G>A (p.Ala712Thr) single nucleotide variant CDH19-related condition [RCV003909753] Chr18:66504997 [GRCh38]
Chr18:64172234 [GRCh37]
Chr18:18q22.1		 benign
NM_021153.4(CDH19):c.2180G>T (p.Gly727Val) single nucleotide variant CDH19-related condition [RCV003962001] Chr18:66504951 [GRCh38]
Chr18:64172188 [GRCh37]
Chr18:18q22.1		 benign
NM_021153.4(CDH19):c.1214+8T>C single nucleotide variant CDH19-related condition [RCV003934119] Chr18:66543963 [GRCh38]
Chr18:64211200 [GRCh37]
Chr18:18q22.1		 likely benign
NM_021153.4(CDH19):c.1079A>G (p.Gln360Arg) single nucleotide variant CDH19-related condition [RCV003906876] Chr18:66544106 [GRCh38]
Chr18:64211343 [GRCh37]
Chr18:18q22.1		 likely benign
NM_021153.4(CDH19):c.73A>G (p.Asn25Asp) single nucleotide variant CDH19-related condition [RCV003942004] Chr18:66572132 [GRCh38]
Chr18:64239369 [GRCh37]
Chr18:18q22.1		 benign
NM_021153.4(CDH19):c.451G>C (p.Glu151Gln) single nucleotide variant CDH19-related condition [RCV003944445] Chr18:66568455 [GRCh38]
Chr18:64235692 [GRCh37]
Chr18:18q22.1		 likely benign
NM_021153.4(CDH19):c.1013A>T (p.Asn338Ile) single nucleotide variant not specified [RCV004428024] Chr18:66544172 [GRCh38]
Chr18:64211409 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1016A>C (p.His339Pro) single nucleotide variant not specified [RCV004428025] Chr18:66544169 [GRCh38]
Chr18:64211406 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1028A>G (p.Glu343Gly) single nucleotide variant not specified [RCV004428026] Chr18:66544157 [GRCh38]
Chr18:64211394 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1037T>C (p.Met346Thr) single nucleotide variant not specified [RCV004428027] Chr18:66544148 [GRCh38]
Chr18:64211385 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1055C>T (p.Ala352Val) single nucleotide variant not specified [RCV004428028] Chr18:66544130 [GRCh38]
Chr18:64211367 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1340A>G (p.Asn447Ser) single nucleotide variant not specified [RCV004428029] Chr18:66529963 [GRCh38]
Chr18:64197200 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1400C>T (p.Ala467Val) single nucleotide variant not specified [RCV004428030] Chr18:66529903 [GRCh38]
Chr18:64197140 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.144C>A (p.Asn48Lys) single nucleotide variant not specified [RCV004428031] Chr18:66572061 [GRCh38]
Chr18:64239298 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.1854A>C (p.Leu618Phe) single nucleotide variant not specified [RCV004428032] Chr18:66505277 [GRCh38]
Chr18:64172514 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.2045A>T (p.Tyr682Phe) single nucleotide variant not specified [RCV004428033] Chr18:66505086 [GRCh38]
Chr18:64172323 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.22C>T (p.Arg8Cys) single nucleotide variant not specified [RCV004428035] Chr18:66572183 [GRCh38]
Chr18:64239420 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.413T>C (p.Val138Ala) single nucleotide variant not specified [RCV004428036] Chr18:66568493 [GRCh38]
Chr18:64235730 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.449A>T (p.Asp150Val) single nucleotide variant not specified [RCV004428037] Chr18:66568457 [GRCh38]
Chr18:64235694 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.554G>A (p.Arg185His) single nucleotide variant not specified [RCV004428038] Chr18:66554461 [GRCh38]
Chr18:64221698 [GRCh37]
Chr18:18q22.1		 uncertain significance
NM_021153.4(CDH19):c.478A>T (p.Met160Leu) single nucleotide variant CDH19-related condition [RCV003897324] Chr18:66568428 [GRCh38]
Chr18:64235665 [GRCh37]
Chr18:18q22.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1950
Count of miRNA genes:810
Interacting mature miRNAs:945
Transcripts:ENST00000262150, ENST00000454642, ENST00000540086, ENST00000579658, ENST00000580157
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D18S857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371864,177,792 - 64,177,887UniSTSGRCh37
Build 361862,328,772 - 62,328,867RGDNCBI36
Celera1860,895,757 - 60,895,849RGD
Cytogenetic Map18q22.1UniSTS
HuRef1860,878,359 - 60,878,451UniSTS
Marshfield Genetic Map1899.04UniSTS
Marshfield Genetic Map1899.04RGD
deCODE Assembly Map1892.79UniSTS
STS-N26740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371864,199,666 - 64,199,845UniSTSGRCh37
Build 361862,350,646 - 62,350,825RGDNCBI36
Celera1860,917,634 - 60,917,813RGD
Cytogenetic Map18q22.1UniSTS
HuRef1860,900,244 - 60,900,423UniSTS
GeneMap99-GB4 RH Map18430.81UniSTS
RH120521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371864,244,484 - 64,244,791UniSTSGRCh37
Build 361862,395,464 - 62,395,771RGDNCBI36
Celera1860,962,455 - 60,962,762RGD
Cytogenetic Map18q22.1UniSTS
HuRef1860,945,046 - 60,945,353UniSTS
TNG Radiation Hybrid Map1831364.0UniSTS
RH65744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371864,197,423 - 64,197,599UniSTSGRCh37
Build 361862,348,403 - 62,348,579RGDNCBI36
Celera1860,915,390 - 60,915,566RGD
Cytogenetic Map18q22.1UniSTS
HuRef1860,898,000 - 60,898,176UniSTS
GeneMap99-GB4 RH Map18430.7UniSTS
SHGC-32555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371864,168,481 - 64,168,630UniSTSGRCh37
Build 361862,319,461 - 62,319,610RGDNCBI36
Celera1860,886,438 - 60,886,587RGD
Cytogenetic Map18q22.1UniSTS
HuRef1860,869,041 - 60,869,190UniSTS
Stanford-G3 RH Map182597.0UniSTS
GeneMap99-GB4 RH Map18417.79UniSTS
Whitehead-RH Map18463.3UniSTS
NCBI RH Map18688.8UniSTS
GeneMap99-G3 RH Map182597.0UniSTS
CDH19_4537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371864,171,475 - 64,172,261UniSTSGRCh37
Build 361862,322,455 - 62,323,241RGDNCBI36
Celera1860,889,432 - 60,890,218RGD
HuRef1860,872,035 - 60,872,821UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1432 747 13 8 50 2 769 886 669 9 129 7 6 54 651
Low 803 1417 1220 466 368 311 2583 599 2105 90 938 1233 159 1 966 1430 2 2
Below cutoff 54 621 386 99 651 98 860 665 865 145 174 129 2 183 705 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001271028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA331759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF047826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ007607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262150   ⟹   ENSP00000262150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1866,501,083 - 66,604,090 (-)Ensembl
RefSeq Acc Id: ENST00000454642   ⟹   ENSP00000401998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1866,532,339 - 66,572,171 (-)Ensembl
RefSeq Acc Id: ENST00000540086   ⟹   ENSP00000439593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1866,505,045 - 66,604,088 (-)Ensembl
RefSeq Acc Id: ENST00000579658   ⟹   ENSP00000463085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1866,504,812 - 66,604,138 (-)Ensembl
RefSeq Acc Id: ENST00000580157   ⟹   ENSP00000464477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1866,572,010 - 66,604,088 (-)Ensembl
RefSeq Acc Id: NM_001271028   ⟹   NP_001257957
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381866,501,083 - 66,604,090 (-)NCBI
GRCh371864,168,320 - 64,271,375 (-)NCBI
HuRef1860,868,984 - 60,971,955 (-)NCBI
CHM1_11864,163,645 - 64,266,628 (-)NCBI
T2T-CHM13v2.01866,699,077 - 66,802,147 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021153   ⟹   NP_066976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381866,501,083 - 66,604,090 (-)NCBI
GRCh371864,168,320 - 64,271,375 (-)NCBI
Build 361862,322,301 - 62,422,196 (-)NCBI Archive
Celera1860,889,278 - 60,989,190 (-)RGD
HuRef1860,868,984 - 60,971,955 (-)NCBI
CHM1_11864,163,645 - 64,266,628 (-)NCBI
T2T-CHM13v2.01866,699,077 - 66,802,147 (-)NCBI
Sequence:
RefSeq Acc Id: NR_073130
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381866,501,083 - 66,604,090 (-)NCBI
GRCh371864,168,320 - 64,271,375 (-)NCBI
HuRef1860,868,984 - 60,971,955 (-)NCBI
CHM1_11864,163,645 - 64,266,628 (-)NCBI
T2T-CHM13v2.01866,699,077 - 66,802,147 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525931   ⟹   XP_011524233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381866,501,083 - 66,568,640 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525932   ⟹   XP_011524234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381866,530,162 - 66,604,090 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437484   ⟹   XP_047293440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381866,501,083 - 66,596,364 (-)NCBI
RefSeq Acc Id: XM_047437485   ⟹   XP_047293441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381866,530,162 - 66,596,361 (-)NCBI
RefSeq Acc Id: XM_054318540   ⟹   XP_054174515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01866,699,077 - 66,794,406 (-)NCBI
RefSeq Acc Id: XM_054318541   ⟹   XP_054174516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01866,699,077 - 66,766,657 (-)NCBI
RefSeq Acc Id: XM_054318542   ⟹   XP_054174517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01866,730,354 - 66,802,147 (-)NCBI
RefSeq Acc Id: XM_054318543   ⟹   XP_054174518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01866,730,354 - 66,794,403 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_066976   ⟸   NM_021153
- Peptide Label: isoform 1 preproprotein
- UniProtKB: B4E1V5 (UniProtKB/Swiss-Prot),   F5H1K0 (UniProtKB/Swiss-Prot),   Q9H159 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257957   ⟸   NM_001271028
- Peptide Label: isoform 2 preproprotein
- UniProtKB: J3KTP3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524233   ⟸   XM_011525931
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011524234   ⟸   XM_011525932
- Peptide Label: isoform X3
- UniProtKB: F8VVI9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000464477   ⟸   ENST00000580157
RefSeq Acc Id: ENSP00000401998   ⟸   ENST00000454642
RefSeq Acc Id: ENSP00000463085   ⟸   ENST00000579658
RefSeq Acc Id: ENSP00000262150   ⟸   ENST00000262150
RefSeq Acc Id: ENSP00000439593   ⟸   ENST00000540086
RefSeq Acc Id: XP_047293440   ⟸   XM_047437484
- Peptide Label: isoform X1
- UniProtKB: Q9H159 (UniProtKB/Swiss-Prot),   B4E1V5 (UniProtKB/Swiss-Prot),   F5H1K0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047293441   ⟸   XM_047437485
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174515   ⟸   XM_054318540
- Peptide Label: isoform X1
- UniProtKB: Q9H159 (UniProtKB/Swiss-Prot),   B4E1V5 (UniProtKB/Swiss-Prot),   F5H1K0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054174516   ⟸   XM_054318541
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174517   ⟸   XM_054318542
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174518   ⟸   XM_054318543
- Peptide Label: isoform X3
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H159-F1-model_v2 AlphaFold Q9H159 1-772 view protein structure

Promoters
RGD ID:7237547
Promoter ID:EPDNEW_H24519
Type:initiation region
Name:CDH19_1
Description:cadherin 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24520  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381866,604,090 - 66,604,150EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1758 AgrOrtholog
COSMIC CDH19 COSMIC
Ensembl Genes ENSG00000071991 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262150 ENTREZGENE
  ENST00000262150.7 UniProtKB/Swiss-Prot
  ENST00000454642 ENTREZGENE
  ENST00000454642.3 UniProtKB/TrEMBL
  ENST00000540086 ENTREZGENE
  ENST00000540086.5 UniProtKB/Swiss-Prot
  ENST00000579658.5 UniProtKB/TrEMBL
  ENST00000580157.2 UniProtKB/TrEMBL
Gene3D-CATH 4.10.900.10 UniProtKB/Swiss-Prot
  Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000071991 GTEx
HGNC ID HGNC:1758 ENTREZGENE
Human Proteome Map CDH19 Human Proteome Map
InterPro Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_cytoplasmic-dom UniProtKB/Swiss-Prot
  Catenin_binding_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:28513 UniProtKB/Swiss-Prot
NCBI Gene 28513 ENTREZGENE
OMIM 603016 OMIM
PANTHER CADHERIN-19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_C UniProtKB/Swiss-Prot
PharmGKB PA26292 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4E1V5 ENTREZGENE
  CAD19_HUMAN UniProtKB/Swiss-Prot
  F5H1K0 ENTREZGENE
  F8VVI9 ENTREZGENE, UniProtKB/TrEMBL
  J3KTP3 ENTREZGENE, UniProtKB/TrEMBL
  J3QS15_HUMAN UniProtKB/TrEMBL
  Q9H159 ENTREZGENE
UniProt Secondary B4E1V5 UniProtKB/Swiss-Prot
  F5H1K0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CDH19  cadherin 19    cadherin 19, type 2  Symbol and/or name change 5135510 APPROVED