HEPACAM (hepatic and glial cell adhesion molecule) - Rat Genome Database

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Gene: HEPACAM (hepatic and glial cell adhesion molecule) Homo sapiens
Analyze
Symbol: HEPACAM
Name: hepatic and glial cell adhesion molecule
RGD ID: 1605560
HGNC Page HGNC
Description: Predicted to be involved in cell adhesion and regulation of growth. Predicted to act upstream of or within cellular protein localization. Located in axon and cell-cell junction. Implicated in megalencephalic leukoencephalopathy with subcortical cysts 2A and megalencephalic leukoencephalopathy with subcortical cysts 2B.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cancer susceptibility; FLJ25530; glial cell adhesion molecule; GlialCAM; hepatocyte cell adhesion molecule; HEPN1; MLC2A; MLC2B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11124,919,205 - 124,936,412 (-)EnsemblGRCh38hg38GRCh38
GRCh3811124,919,205 - 124,936,412 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711124,789,101 - 124,805,943 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611124,294,355 - 124,311,518 (-)NCBINCBI36hg18NCBI36
Celera11121,949,291 - 121,966,450 (-)NCBI
Cytogenetic Map11q24.2NCBI
HuRef11120,731,416 - 120,748,491 (-)NCBIHuRef
CHM1_111124,675,257 - 124,692,409 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:12971969   PMID:15885354   PMID:15917256   PMID:16344560   PMID:18082421   PMID:18293412   PMID:18845560   PMID:19059381   PMID:19142852   PMID:19507233   PMID:20205955  
PMID:20237496   PMID:20301707   PMID:20514407   PMID:20593288   PMID:20628239   PMID:21419380   PMID:21618595   PMID:21624973   PMID:21873635   PMID:22906662   PMID:23793458   PMID:24202401  
PMID:24324362   PMID:24501781   PMID:24515280   PMID:24580998   PMID:24645843   PMID:24811146   PMID:24824219   PMID:25044933   PMID:25185546   PMID:26033718   PMID:26392113   PMID:26677113  
PMID:26873485   PMID:27322623   PMID:27389245   PMID:27819278   PMID:28093267   PMID:28229220   PMID:28244854   PMID:28514442   PMID:29658567   PMID:30664187   PMID:31372844   PMID:31586073  
PMID:31960914   PMID:32335882   PMID:33024272   PMID:33961781  


Genomics

Comparative Map Data
HEPACAM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11124,919,205 - 124,936,412 (-)EnsemblGRCh38hg38GRCh38
GRCh3811124,919,205 - 124,936,412 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711124,789,101 - 124,805,943 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611124,294,355 - 124,311,518 (-)NCBINCBI36hg18NCBI36
Celera11121,949,291 - 121,966,450 (-)NCBI
Cytogenetic Map11q24.2NCBI
HuRef11120,731,416 - 120,748,491 (-)NCBIHuRef
CHM1_111124,675,257 - 124,692,409 (-)NCBICHM1_1
Hepacam
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39937,278,652 - 37,297,868 (+)NCBIGRCm39mm39
GRCm39 Ensembl937,278,647 - 37,297,871 (+)Ensembl
GRCm38937,367,356 - 37,386,572 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl937,367,351 - 37,386,575 (+)EnsemblGRCm38mm10GRCm38
MGSCv37937,175,191 - 37,194,157 (+)NCBIGRCm37mm9NCBIm37
MGSCv36937,117,277 - 37,136,243 (+)NCBImm8
Celera934,581,970 - 34,600,929 (+)NCBICelera
Cytogenetic Map9A4NCBI
Hepacam
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2837,087,864 - 37,106,759 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl837,087,857 - 37,105,920 (+)Ensembl
Rnor_6.0839,848,264 - 39,866,969 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl839,848,448 - 39,865,130 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0839,849,478 - 39,867,855 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4838,622,954 - 38,639,861 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1838,631,648 - 38,648,624 (+)NCBI
Celera837,346,023 - 37,363,913 (-)NCBICelera
Cytogenetic Map8q21NCBI
Hepacam
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541225,980,460 - 25,998,482 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541225,981,235 - 25,998,296 (-)NCBIChiLan1.0ChiLan1.0
HEPACAM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111123,662,852 - 123,678,421 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11123,663,210 - 123,678,015 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011119,746,915 - 119,764,062 (-)NCBIMhudiblu_PPA_v0panPan3
HEPACAM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.159,520,998 - 9,535,019 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl59,521,740 - 9,534,958 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha59,566,458 - 9,580,496 (+)NCBI
ROS_Cfam_1.059,460,731 - 9,474,776 (+)NCBI
UMICH_Zoey_3.159,533,390 - 9,547,430 (+)NCBI
UNSW_CanFamBas_1.059,503,845 - 9,517,897 (+)NCBI
UU_Cfam_GSD_1.059,540,543 - 9,554,588 (+)NCBI
Hepacam
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947107,105,778 - 107,119,096 (-)NCBI
SpeTri2.0NW_0049367431,353,340 - 1,366,724 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEPACAM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl952,115,500 - 52,131,505 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1952,115,494 - 52,131,801 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2957,632,582 - 57,647,218 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HEPACAM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11116,063,150 - 116,080,620 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1116,063,166 - 116,080,125 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604310,038,405 - 10,055,236 (+)NCBIVero_WHO_p1.0
Hepacam
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624927922,272 - 939,429 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH78168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,789,333 - 124,789,518UniSTSGRCh37
Build 3611124,294,543 - 124,294,728RGDNCBI36
Celera11121,949,479 - 121,949,664RGD
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q24UniSTS
HuRef11120,731,604 - 120,731,789UniSTS
GeneMap99-GB4 RH Map11414.1UniSTS
2046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,790,179 - 124,790,267UniSTSGRCh37
Build 3611124,295,389 - 124,295,477RGDNCBI36
Celera11121,950,325 - 121,950,413RGD
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q24UniSTS
HuRef11120,732,450 - 120,732,538UniSTS
GeneMap99-GB4 RH Map11414.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1470
Count of miRNA genes:856
Interacting mature miRNAs:1009
Transcripts:ENST00000298251, ENST00000526273, ENST00000528971
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.


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
High
Medium 3 4 45 33 1 33 335 2692 1 1 241 212
Low 1026 228 377 286 75 260 1070 558 734 21 366 61 27 897 508
Below cutoff 1173 1984 1030 221 768 91 2113 1294 206 159 786 1029 132 1 64 1611

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000298251   ⟹   ENSP00000298251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11124,919,205 - 124,936,047 (-)Ensembl
RefSeq Acc Id: ENST00000526273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11124,923,615 - 124,924,926 (-)Ensembl
RefSeq Acc Id: ENST00000528971
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11124,924,615 - 124,936,412 (-)Ensembl
RefSeq Acc Id: NM_152722   ⟹   NP_689935
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,919,205 - 124,936,047 (-)NCBI
GRCh3711124,789,089 - 124,806,308 (-)NCBI
Build 3611124,294,355 - 124,311,518 (-)NCBI Archive
HuRef11120,731,416 - 120,748,491 (-)ENTREZGENE
CHM1_111124,675,257 - 124,692,409 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005271449   ⟹   XP_005271506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,919,244 - 124,936,412 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017361   ⟹   XP_016872850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,919,244 - 124,936,412 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689935   ⟸   NM_152722
- Peptide Label: precursor
- UniProtKB: Q14CZ8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005271506   ⟸   XM_005271449
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016872850   ⟸   XM_017017361
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000298251   ⟸   ENST00000298251
Protein Domains
Ig-like C2-type   Ig-like V-type

Promoters
RGD ID:7222519
Promoter ID:EPDNEW_H17005
Type:initiation region
Name:HEPACAM_2
Description:hepatic and glial cell adhesion molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17006  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,936,047 - 124,936,107EPDNEW
RGD ID:7222523
Promoter ID:EPDNEW_H17006
Type:initiation region
Name:HEPACAM_1
Description:hepatic and glial cell adhesion molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17005  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,936,345 - 124,936,405EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
HEPACAM, TRP263TER variation Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV000023903] Chr11:11q24 pathogenic
NM_152722.5(HEPACAM):c.949-107G>A single nucleotide variant not provided [RCV001571352] Chr11:124921547 [GRCh38]
Chr11:124791443 [GRCh37]
Chr11:11q24.2
likely benign
NM_152722.5(HEPACAM):c.587C>A (p.Ser196Tyr) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV000023902]|not provided [RCV001092301] Chr11:124923851 [GRCh38]
Chr11:124793747 [GRCh37]
Chr11:11q24.2
pathogenic
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV000023904] Chr11:124924880 [GRCh38]
Chr11:124794776 [GRCh37]
Chr11:11q24.2
pathogenic
NM_152722.5(HEPACAM):c.631G>A (p.Asp211Asn) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV000023905] Chr11:124923807 [GRCh38]
Chr11:124793703 [GRCh37]
Chr11:11q24.2
pathogenic
NM_152722.5(HEPACAM):c.292C>T (p.Arg98Cys) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV000023906] Chr11:124924863 [GRCh38]
Chr11:124794759 [GRCh37]
Chr11:11q24.2
pathogenic
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV000055996]|Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation [RCV000023907]|not provided [RCV000390259] Chr11:124924890 [GRCh38]
Chr11:124794786 [GRCh37]
Chr11:11q24.2
pathogenic
NM_152722.5(HEPACAM):c.266G>A (p.Gly89Asp) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation [RCV000023908] Chr11:124924889 [GRCh38]
Chr11:124794785 [GRCh37]
Chr11:11q24.2
pathogenic
NM_152722.5(HEPACAM):c.274C>T (p.Arg92Trp) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV000055997]|Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation [RCV000023909] Chr11:124924881 [GRCh38]
Chr11:124794777 [GRCh37]
Chr11:11q24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25
pathogenic
NM_152722.5(HEPACAM):c.757_759del (p.Leu253del) deletion not provided [RCV000171466] Chr11:124923384..124923386 [GRCh38]
Chr11:124793280..124793282 [GRCh37]
Chr11:11q24.2
likely pathogenic
NM_152722.5(HEPACAM):c.665C>T (p.Pro222Leu) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV001332975] Chr11:124923773 [GRCh38]
Chr11:124793669 [GRCh37]
Chr11:11q24.2
uncertain significance
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1 copy number loss See cases [RCV000136594] Chr11:122182443..125957977 [GRCh38]
Chr11:122053151..125827872 [GRCh37]
Chr11:121558361..125333082 [NCBI36]
Chr11:11q24.1-24.2
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.2(chr11:124565941-125095785)x1 copy number loss See cases [RCV000138074] Chr11:124565941..125095785 [GRCh38]
Chr11:124435837..124965681 [GRCh37]
Chr11:123941047..124470891 [NCBI36]
Chr11:11q24.2
uncertain significance
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
NM_201384.3(PLEC):c.12027C>T (p.Arg4009=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV001702404]|Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation [RCV001702405]|Megalencephalic leukoencephalopathy with subcortical cysts [RCV000405459]|not provided [RCV001517787]|not specified [RCV000244240] Chr11:124923820 [GRCh38]
Chr11:124793716 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.971A>G (p.Asn324Ser) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000268154]|not provided [RCV001519144]|not specified [RCV000244649] Chr11:124921418 [GRCh38]
Chr11:124791314 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_152722.5(HEPACAM):c.339G>A (p.Gln113=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000300441]|not provided [RCV001520320]|not specified [RCV000242326] Chr11:124924816 [GRCh38]
Chr11:124794712 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_152722.5(HEPACAM):c.363G>A (p.Glu121=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000403502]|not provided [RCV001520638]|not specified [RCV000247316] Chr11:124924792 [GRCh38]
Chr11:124794688 [GRCh37]
Chr11:11q24.2
benign|likely benign
null single nucleotide variant not provided [RCV001589291]|not specified [RCV000252251] Chr11:124924689 [GRCh38]
Chr11:124794585 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV001702406]|Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation [RCV001702407]|Megalencephalic leukoencephalopathy with subcortical cysts [RCV000348422]|not provided [RCV001518807]|not specified [RCV000247602] Chr11:124923786 [GRCh38]
Chr11:124793682 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.877+14C>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000323322]|not provided [RCV001522822]|not specified [RCV000252569] Chr11:124922731 [GRCh38]
Chr11:124792627 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.*50C>G single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000322111]|not provided [RCV001668607]|not specified [RCV000250353] Chr11:124921088 [GRCh38]
Chr11:124790984 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_152722.5(HEPACAM):c.*1278C>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000301826] Chr11:124919860 [GRCh38]
Chr11:124789756 [GRCh37]
Chr11:11q24.2
pathogenic|uncertain significance
NM_152722.5(HEPACAM):c.258G>A (p.Glu86=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000302081]|not provided [RCV000963948] Chr11:124924897 [GRCh38]
Chr11:124794793 [GRCh37]
Chr11:11q24.2
benign|likely benign|uncertain significance
NM_152722.5(HEPACAM):c.*411G>C single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000284111] Chr11:124920727 [GRCh38]
Chr11:124790623 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*338C>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000285196] Chr11:124920800 [GRCh38]
Chr11:124790696 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_152722.5(HEPACAM):c.*112G>C single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000369981] Chr11:124921026 [GRCh38]
Chr11:124790922 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*472T>G single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000370888] Chr11:124920666 [GRCh38]
Chr11:124790562 [GRCh37]
Chr11:11q24.2
likely benign|uncertain significance
NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000288266]|not provided [RCV000994750] Chr11:124922760 [GRCh38]
Chr11:124792656 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.8G>C (p.Arg3Thr) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000272684]|not provided [RCV000955435] Chr11:124935999 [GRCh38]
Chr11:124805895 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_152722.5(HEPACAM):c.851A>G (p.Gln284Arg) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000329262]|not provided [RCV000899997] Chr11:124922771 [GRCh38]
Chr11:124792667 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_152722.5(HEPACAM):c.*1852C>G single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000329714] Chr11:124919286 [GRCh38]
Chr11:124789182 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*457_*460del deletion Megalencephalic leukoencephalopathy with subcortical cysts [RCV000274120] Chr11:124920678..124920681 [GRCh38]
Chr11:124790574..124790577 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.-28G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000331400] Chr11:124936034 [GRCh38]
Chr11:124805930 [GRCh37]
Chr11:11q24.2
benign|uncertain significance
NM_152722.5(HEPACAM):c.*460G>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000356056] Chr11:124920678 [GRCh38]
Chr11:124790574 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.740C>T (p.Thr247Ile) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000293571] Chr11:124923403 [GRCh38]
Chr11:124793299 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000277570]|not provided [RCV001711778] Chr11:124936088 [GRCh38]
Chr11:124805984 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_152722.5(HEPACAM):c.591C>T (p.Pro197=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000294554]|not provided [RCV000923638] Chr11:124923847 [GRCh38]
Chr11:124793743 [GRCh37]
Chr11:11q24.2
likely benign|uncertain significance
NM_152722.5(HEPACAM):c.*459T>G single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000316498] Chr11:124920679 [GRCh38]
Chr11:124790575 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*1206T>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000340406] Chr11:124919932 [GRCh38]
Chr11:124789828 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_152722.5(HEPACAM):c.*83G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000262248] Chr11:124921055 [GRCh38]
Chr11:124790951 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.217C>G (p.Arg73Gly) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000266865] Chr11:124924938 [GRCh38]
Chr11:124794834 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*1283_*1285CCT[2] microsatellite Megalencephalic leukoencephalopathy with subcortical cysts [RCV000341822] Chr11:124919847..124919849 [GRCh38]
Chr11:124789743..124789745 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*862C>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000270564] Chr11:124920276 [GRCh38]
Chr11:124790172 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*270C>G single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000344758] Chr11:124920868 [GRCh38]
Chr11:124790764 [GRCh37]
Chr11:11q24.2
likely benign|uncertain significance
NM_152722.5(HEPACAM):c.*1033A>G single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000395500] Chr11:124920105 [GRCh38]
Chr11:124790001 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.288A>C (p.Arg96=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000397096]|not provided [RCV000957028] Chr11:124924867 [GRCh38]
Chr11:124794763 [GRCh37]
Chr11:11q24.2
benign|likely benign|uncertain significance
NM_152722.5(HEPACAM):c.*112G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000397413] Chr11:124921026 [GRCh38]
Chr11:124790922 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.87C>G (p.Asp29Glu) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000307943] Chr11:124925068 [GRCh38]
Chr11:124794964 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*459_*460insCC insertion Megalencephalic leukoencephalopathy with subcortical cysts [RCV000263598] Chr11:124920678..124920679 [GRCh38]
Chr11:124790574..124790575 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*1279A>G single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000404367] Chr11:124919859 [GRCh38]
Chr11:124789755 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.*363dup duplication Megalencephalic leukoencephalopathy with subcortical cysts [RCV000379637] Chr11:124920774..124920775 [GRCh38]
Chr11:124790670..124790671 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*1794_*1797GTTT[3] microsatellite Megalencephalic leukoencephalopathy with subcortical cysts [RCV000386525] Chr11:124919336..124919337 [GRCh38]
Chr11:124789232..124789233 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.871C>T (p.Pro291Ser) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000382583] Chr11:124922751 [GRCh38]
Chr11:124792647 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.472C>T (p.Leu158=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000335539] Chr11:124923966 [GRCh38]
Chr11:124793862 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr) single nucleotide variant Intellectual disability [RCV001252515]|Megalencephalic leukoencephalopathy with subcortical cysts [RCV000358121]|not provided [RCV000994749]|not specified [RCV001193311] Chr11:124921317 [GRCh38]
Chr11:124791213 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.803+6G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000383269] Chr11:124923334 [GRCh38]
Chr11:124793230 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*112G>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000315589]|not provided [RCV001707635] Chr11:124921026 [GRCh38]
Chr11:124790922 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.*1614A>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000337819] Chr11:124919524 [GRCh38]
Chr11:124789420 [GRCh37]
Chr11:11q24.2
benign|uncertain significance
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000385985]|not provided [RCV001582935] Chr11:124936073 [GRCh38]
Chr11:124805969 [GRCh37]
Chr11:11q24.2
likely benign|uncertain significance
NM_152722.5(HEPACAM):c.*1451del deletion Megalencephalic leukoencephalopathy with subcortical cysts [RCV000279667] Chr11:124919687 [GRCh38]
Chr11:124789583 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.15G>T (p.Arg5Ser) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000362576] Chr11:124935992 [GRCh38]
Chr11:124805888 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*1799T>C single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000280384] Chr11:124919339 [GRCh38]
Chr11:124789235 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.1176G>A (p.Ser392=) single nucleotide variant not provided [RCV000488308] Chr11:124921213 [GRCh38]
Chr11:124791109 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*943G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000362809] Chr11:124920195 [GRCh38]
Chr11:124790091 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*456_*460del deletion Megalencephalic leukoencephalopathy with subcortical cysts [RCV000331473] Chr11:124920678..124920682 [GRCh38]
Chr11:124790574..124790578 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.893G>A (p.Arg298Gln) single nucleotide variant not provided [RCV000520898] Chr11:124922443 [GRCh38]
Chr11:124792339 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*116G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000405255] Chr11:124921022 [GRCh38]
Chr11:124790918 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*392C>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000320408] Chr11:124920746 [GRCh38]
Chr11:124790642 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*116dup duplication Megalencephalic leukoencephalopathy with subcortical cysts [RCV000350438] Chr11:124921021..124921022 [GRCh38]
Chr11:124790917..124790918 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.291C>G (p.Asp97Glu) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000337103] Chr11:124924864 [GRCh38]
Chr11:124794760 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*105G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000297932] Chr11:124921033 [GRCh38]
Chr11:124790929 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*1476C>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000371935] Chr11:124919662 [GRCh38]
Chr11:124789558 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*207G>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000390651] Chr11:124920931 [GRCh38]
Chr11:124790827 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*989G>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000310190] Chr11:124920149 [GRCh38]
Chr11:124790045 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*419G>C single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000373482] Chr11:124920719 [GRCh38]
Chr11:124790615 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*88G>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000357444] Chr11:124921050 [GRCh38]
Chr11:124790946 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*192T>C single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000290831] Chr11:124920946 [GRCh38]
Chr11:124790842 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*629G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000313847] Chr11:124920509 [GRCh38]
Chr11:124790405 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.254C>T (p.Thr85Ile) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV000361521] Chr11:124924901 [GRCh38]
Chr11:124794797 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.637G>A (p.Asp213Asn) single nucleotide variant not provided [RCV001092300] Chr11:124923801 [GRCh38]
Chr11:124793697 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.592G>A (p.Asp198Asn) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation [RCV000625991] Chr11:124923846 [GRCh38]
Chr11:124793742 [GRCh37]
Chr11:11q24.2
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_152722.5(HEPACAM):c.803+8T>C single nucleotide variant not provided [RCV000415929] Chr11:124923332 [GRCh38]
Chr11:124793228 [GRCh37]
Chr11:11q24.2
conflicting interpretations of pathogenicity|uncertain significance
NM_152722.5(HEPACAM):c.503G>C (p.Cys168Ser) single nucleotide variant not provided [RCV000522640] Chr11:124923935 [GRCh38]
Chr11:124793831 [GRCh37]
Chr11:11q24.2
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV001196308]|not provided [RCV000512664] Chr11:124921191 [GRCh38]
Chr11:124791087 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.1197C>T (p.Gly399=) single nucleotide variant not specified [RCV000434595] Chr11:124921192 [GRCh38]
Chr11:124791088 [GRCh37]
Chr11:11q24.2
likely benign
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) single nucleotide variant not provided [RCV001703613] Chr11:124923735 [GRCh38]
Chr11:124793631 [GRCh37]
Chr11:11q24.2
likely benign
NM_152722.5(HEPACAM):c.977C>A (p.Ala326Asp) single nucleotide variant not provided [RCV000442985] Chr11:124921412 [GRCh38]
Chr11:124791308 [GRCh37]
Chr11:11q24.2
uncertain significance
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.2(chr11:124254553-125315622)x1 copy number loss See cases [RCV000448684] Chr11:124254553..125315622 [GRCh37]
Chr11:11q24.2
pathogenic
NM_152722.5(HEPACAM):c.980del (p.Pro327fs) deletion not provided [RCV000482263] Chr11:124921409 [GRCh38]
Chr11:124791305 [GRCh37]
Chr11:11q24.2
pathogenic
NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 1 [RCV000763712]|not specified [RCV000503439] Chr11:124923824 [GRCh38]
Chr11:124793720 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV000499085] Chr11:124923996 [GRCh38]
Chr11:124793892 [GRCh37]
Chr11:11q24.2
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_152722.5(HEPACAM):c.85+1G>A single nucleotide variant not provided [RCV000513100] Chr11:124935921 [GRCh38]
Chr11:124805817 [GRCh37]
Chr11:11q24.2
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 1 [RCV000722141] Chr11:124924796 [GRCh38]
Chr11:124794692 [GRCh37]
Chr11:11q24.2
likely pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_152722.5(HEPACAM):c.803+1G>A single nucleotide variant Autism spectrum disorder [RCV000754671] Chr11:124923339 [GRCh38]
Chr11:124793235 [GRCh37]
Chr11:11q24.2
likely pathogenic
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001678664] Chr11:124922277 [GRCh38]
Chr11:124792173 [GRCh37]
Chr11:11q24.2
benign
null single nucleotide variant not provided [RCV001666074] Chr11:124936564 [GRCh38]
Chr11:124806460 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.843C>T (p.Tyr281=) single nucleotide variant not provided [RCV000981852] Chr11:124922779 [GRCh38]
Chr11:124792675 [GRCh37]
Chr11:11q24.2
likely benign
NM_152722.5(HEPACAM):c.877+8C>T single nucleotide variant not provided [RCV000908481] Chr11:124922737 [GRCh38]
Chr11:124792633 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.696G>A (p.Lys232=) single nucleotide variant not provided [RCV000915087] Chr11:124923742 [GRCh38]
Chr11:124793638 [GRCh37]
Chr11:11q24.2
likely benign
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_152722.5(HEPACAM):c.128T>A (p.Ile43Asn) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV000791045]|Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation [RCV000791044] Chr11:124925027 [GRCh38]
Chr11:124794923 [GRCh37]
Chr11:11q24.2
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_152722.5(HEPACAM):c.618C>G (p.Arg206=) single nucleotide variant not provided [RCV000914127] Chr11:124923820 [GRCh38]
Chr11:124793716 [GRCh37]
Chr11:11q24.2
likely benign
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
NM_152722.5(HEPACAM):c.*709C>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001105124] Chr11:124920429 [GRCh38]
Chr11:124790325 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.709+12C>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001105201] Chr11:124923717 [GRCh38]
Chr11:124793613 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*1634A>G single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001108376] Chr11:124919504 [GRCh38]
Chr11:124789400 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.139G>A (p.Val47Met) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV001197244] Chr11:124925016 [GRCh38]
Chr11:124794912 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*1235G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001103207] Chr11:124919903 [GRCh38]
Chr11:124789799 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.1060C>T (p.Pro354Ser) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001103288] Chr11:124921329 [GRCh38]
Chr11:124791225 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.217C>T (p.Arg73Trp) single nucleotide variant not provided [RCV001546576] Chr11:124924938 [GRCh38]
Chr11:124794834 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.85+118T>C single nucleotide variant not provided [RCV001560323] Chr11:124935804 [GRCh38]
Chr11:124805700 [GRCh37]
Chr11:11q24.2
likely benign
null single nucleotide variant not provided [RCV001583021] Chr11:124935631 [GRCh38]
Chr11:124805527 [GRCh37]
Chr11:11q24.2
likely benign
NM_152722.5(HEPACAM):c.949-265G>A single nucleotide variant not provided [RCV001540212] Chr11:124921705 [GRCh38]
Chr11:124791601 [GRCh37]
Chr11:11q24.2
likely benign
NM_152722.5(HEPACAM):c.428-8C>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001108553]|not provided [RCV000909314] Chr11:124924018 [GRCh38]
Chr11:124793914 [GRCh37]
Chr11:11q24.2
likely benign|uncertain significance
NM_152722.5(HEPACAM):c.1164G>A (p.Ser388=) single nucleotide variant not provided [RCV000888962] Chr11:124921225 [GRCh38]
Chr11:124791121 [GRCh37]
Chr11:11q24.2
likely benign
NM_152722.5(HEPACAM):c.*459T>C single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001106244] Chr11:124920679 [GRCh38]
Chr11:124790575 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*342G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001106246] Chr11:124920796 [GRCh38]
Chr11:124790692 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.573G>C (p.Ser191=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001106336] Chr11:124923865 [GRCh38]
Chr11:124793761 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.975G>A (p.Pro325=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001103289]|not provided [RCV001568436] Chr11:124921414 [GRCh38]
Chr11:124791310 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_152722.5(HEPACAM):c.235G>A (p.Val79Met) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001108554] Chr11:124924920 [GRCh38]
Chr11:124794816 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*727G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001105123] Chr11:124920411 [GRCh38]
Chr11:124790307 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.702C>T (p.Thr234=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001105202]|not provided [RCV001568456] Chr11:124923736 [GRCh38]
Chr11:124793632 [GRCh37]
Chr11:11q24.2
likely benign|uncertain significance
NM_152722.5(HEPACAM):c.636C>T (p.Asp212=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001106335]|not provided [RCV000913416] Chr11:124923802 [GRCh38]
Chr11:124793698 [GRCh37]
Chr11:11q24.2
likely benign|uncertain significance
NM_152722.5(HEPACAM):c.234C>T (p.Thr78=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001103384]|not provided [RCV000957029] Chr11:124924921 [GRCh38]
Chr11:124794817 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_152722.5(HEPACAM):c.1169_1180del (p.Ser390_Arg393del) deletion not provided [RCV001569802] Chr11:124921209..124921220 [GRCh38]
Chr11:124791105..124791116 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.804-242G>C single nucleotide variant not provided [RCV001567304] Chr11:124923060 [GRCh38]
Chr11:124792956 [GRCh37]
Chr11:11q24.2
likely benign
NM_152722.5(HEPACAM):c.948+277C>T single nucleotide variant not provided [RCV001563440] Chr11:124922111 [GRCh38]
Chr11:124792007 [GRCh37]
Chr11:11q24.2
likely benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001649177] Chr11:124925262 [GRCh38]
Chr11:124795158 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.85+103G>A single nucleotide variant not provided [RCV001560019] Chr11:124935819 [GRCh38]
Chr11:124805715 [GRCh37]
Chr11:11q24.2
likely benign
null single nucleotide variant not provided [RCV001594101] Chr11:124924773 [GRCh38]
Chr11:124794669 [GRCh37]
Chr11:11q24.2
uncertain significance
null deletion not provided [RCV001619436] Chr11:124921714 [GRCh38]
Chr11:124791610 [GRCh37]
Chr11:11q24.2
benign
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) single nucleotide variant not provided [RCV001640982] Chr11:124925258 [GRCh38]
Chr11:124795154 [GRCh37]
Chr11:11q24.2
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001682392] Chr11:124922644 [GRCh38]
Chr11:124792540 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.*1024G>C single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001103208] Chr11:124920114 [GRCh38]
Chr11:124790010 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*831G>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001105122] Chr11:124920307 [GRCh38]
Chr11:124790203 [GRCh37]
Chr11:11q24.2
likely benign
NM_152722.5(HEPACAM):c.*666G>A single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001105125] Chr11:124920472 [GRCh38]
Chr11:124790368 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.469G>A (p.Val157Met) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001106337] Chr11:124923969 [GRCh38]
Chr11:124793865 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.427+226A>C single nucleotide variant not provided [RCV001566935] Chr11:124924502 [GRCh38]
Chr11:124794398 [GRCh37]
Chr11:11q24.2
likely benign
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25
pathogenic
NM_152722.5(HEPACAM):c.*458T>C single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001106245] Chr11:124920680 [GRCh38]
Chr11:124790576 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.1128G>A (p.Ser376=) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001103287] Chr11:124921261 [GRCh38]
Chr11:124791157 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*1852C>T single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001108375] Chr11:124919286 [GRCh38]
Chr11:124789182 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.*1479T>C single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts [RCV001108377] Chr11:124919659 [GRCh38]
Chr11:124789555 [GRCh37]
Chr11:11q24.2
likely benign
NM_152722.5(HEPACAM):c.949-67C>G single nucleotide variant not provided [RCV001564760] Chr11:124921507 [GRCh38]
Chr11:124791403 [GRCh37]
Chr11:11q24.2
likely benign
NM_152722.5(HEPACAM):c.922A>G (p.Met308Val) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV001333588] Chr11:124922414 [GRCh38]
Chr11:124792310 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.259G>A (p.Val87Ile) single nucleotide variant Megalencephalic leukoencephalopathy with subcortical cysts 2a [RCV001332974] Chr11:124924896 [GRCh38]
Chr11:124794792 [GRCh37]
Chr11:11q24.2
uncertain significance
NM_152722.5(HEPACAM):c.523A>T (p.Lys175Ter) single nucleotide variant not provided [RCV001380252] Chr11:124923915 [GRCh38]
Chr11:124793811 [GRCh37]
Chr11:11q24.2
pathogenic
null single nucleotide variant not provided [RCV001695016] Chr11:124935723 [GRCh38]
Chr11:124805619 [GRCh37]
Chr11:11q24.2
benign
NM_152722.5(HEPACAM):c.804-20G>A single nucleotide variant not provided [RCV001512938] Chr11:124922838 [GRCh38]
Chr11:124792734 [GRCh37]
Chr11:11q24.2
benign|likely benign
NM_001625.4(AK2):c.330+1G>C single nucleotide variant not provided [RCV001732379] Chr11:124921171 [GRCh38]
Chr11:124791067 [GRCh37]
Chr11:11q24.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26361 AgrOrtholog
COSMIC HEPACAM COSMIC
Ensembl Genes ENSG00000165478 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000298251 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000298251 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000165478 GTEx
HGNC ID HGNC:26361 ENTREZGENE
Human Proteome Map HEPACAM Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot
KEGG Report hsa:220296 UniProtKB/Swiss-Prot
NCBI Gene 220296 ENTREZGENE
OMIM 611642 OMIM
  613925 OMIM
  613926 OMIM
Pfam V-set UniProtKB/Swiss-Prot
PharmGKB PA162390830 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt HECAM_HUMAN UniProtKB/Swiss-Prot
  L0R4Y5_HUMAN UniProtKB/TrEMBL
  Q14CZ8 ENTREZGENE
UniProt Secondary Q67IP8 UniProtKB/Swiss-Prot
  Q6ZWL4 UniProtKB/Swiss-Prot
  Q8N7I3 UniProtKB/Swiss-Prot
  Q8ND35 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 HEPACAM  hepatic and glial cell adhesion molecule  HEPACAM  hepatocyte cell adhesion molecule  Symbol and/or name change 5135510 APPROVED