CHL1 (cell adhesion molecule L1 like) - Rat Genome Database

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Gene: CHL1 (cell adhesion molecule L1 like) Homo sapiens
Analyze
Symbol: CHL1
Name: cell adhesion molecule L1 like
RGD ID: 1346370
HGNC Page HGNC:1939
Description: Predicted to enable cell-cell adhesion mediator activity and protease binding activity. Predicted to be involved in cell adhesion and signal transduction. Predicted to act upstream of or within several processes, including adult locomotory behavior; exploration behavior; and generation of neurons. Located in extracellular exosome. Implicated in schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CALL; cell adhesion molecule L1-like; cell adhesion molecule with homology to L1CAM (close homolog of L1); cell adhesion molecule with homology to L1CAM (close homologue of L1); close homolog of L1; DKFZp547L174; FLJ30674; FLJ44930; L1 cell adhesion molecule 2; L1CAM2; MGC132578; neural cell adhesion molecule L1-like protein
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
GRCh383196,763 - 409,417 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,763 - 409,417 (+)EnsemblGRCh38hg38GRCh38
GRCh373238,446 - 451,100 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363213,650 - 426,098 (+)NCBINCBI36Build 36hg18NCBI36
Build 343213,649 - 426,098NCBI
Celera3184,048 - 396,327 (+)NCBICelera
Cytogenetic Map3p26.3NCBI
HuRef3183,830 - 396,668 (+)NCBIHuRef
CHM1_13181,916 - 401,107 (+)NCBICHM1_1
T2T-CHM13v2.03188,582 - 401,277 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Seizure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia. Sakurai K, etal., Mol Psychiatry 2002;7(4):412-5.
6. Increased expression of the close homolog of the adhesion molecule L1 in different cell types over time after rat spinal cord contusion. Wu J, etal., J Neurosci Res. 2011 May;89(5):628-38. doi: 10.1002/jnr.22598. Epub 2011 Feb 17.
7. Increase of close homolog of cell adhesion molecule L1 in primary afferent by nerve injury and the contribution to neuropathic pain. Yamanaka H, etal., J Comp Neurol. 2011 Jun 1;519(8):1597-615. doi: 10.1002/cne.22588.
Additional References at PubMed
PMID:9799093   PMID:10508992   PMID:12477932   PMID:12812975   PMID:14702039   PMID:15489334   PMID:15653271   PMID:15704102   PMID:16335952   PMID:16344560   PMID:16597699   PMID:17592550  
PMID:18046458   PMID:19064572   PMID:19509545   PMID:20101686   PMID:20298200   PMID:20339536   PMID:20379614   PMID:20634891   PMID:21216876   PMID:21332311   PMID:21408220   PMID:21457564  
PMID:21658281   PMID:21873635   PMID:22041458   PMID:22219177   PMID:22581228   PMID:22634495   PMID:22744455   PMID:22909203   PMID:22988240   PMID:23251661   PMID:23436495   PMID:23533145  
PMID:23857787   PMID:23906755   PMID:24203666   PMID:24288179   PMID:24324551   PMID:24512353   PMID:24778888   PMID:24971532   PMID:25451713   PMID:25943212   PMID:27933663   PMID:28178655  
PMID:28514442   PMID:30021884   PMID:30134821   PMID:30311656   PMID:30622339   PMID:30943448   PMID:31372722   PMID:31614370   PMID:32557322   PMID:33054469   PMID:33326488   PMID:33453020  
PMID:33961781   PMID:34056867   PMID:34718336   PMID:35262525  


Genomics

Comparative Map Data
CHL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383196,763 - 409,417 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,763 - 409,417 (+)EnsemblGRCh38hg38GRCh38
GRCh373238,446 - 451,100 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363213,650 - 426,098 (+)NCBINCBI36Build 36hg18NCBI36
Build 343213,649 - 426,098NCBI
Celera3184,048 - 396,327 (+)NCBICelera
Cytogenetic Map3p26.3NCBI
HuRef3183,830 - 396,668 (+)NCBIHuRef
CHM1_13181,916 - 401,107 (+)NCBICHM1_1
T2T-CHM13v2.03188,582 - 401,277 (+)NCBIT2T-CHM13v2.0
Chl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396103,487,372 - 103,709,999 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6103,487,547 - 103,727,172 (+)EnsemblGRCm39 Ensembl
GRCm386103,510,584 - 103,733,038 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6103,510,586 - 103,750,211 (+)EnsemblGRCm38mm10GRCm38
MGSCv376103,460,870 - 103,683,029 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366103,476,776 - 103,695,601 (+)NCBIMGSCv36mm8
Celera6105,381,168 - 105,594,453 (+)NCBICelera
Cytogenetic Map6E1NCBI
cM Map647.97NCBI
Chl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84137,847,648 - 138,062,077 (+)NCBIGRCr8
mRatBN7.24136,291,504 - 136,505,830 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4136,291,463 - 136,503,265 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0470,269,414 - 70,331,313 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl470,252,366 - 70,330,803 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04134,915,211 - 135,121,060 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera4125,052,335 - 125,267,922 (+)NCBICelera
Cytogenetic Map4q41NCBI
Chl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542112,763,287 - 12,958,065 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542112,763,432 - 12,957,852 (-)NCBIChiLan1.0ChiLan1.0
CHL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22199,839 - 409,103 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13204,913 - 413,859 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03146,514 - 354,334 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13262,725 - 469,720 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3262,717 - 469,715 (+)Ensemblpanpan1.1panPan2
CHL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12016,789,697 - 17,065,861 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2016,792,960 - 16,984,613 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2016,749,264 - 16,944,183 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02016,813,683 - 17,008,977 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12016,507,712 - 16,702,265 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02016,846,488 - 17,041,214 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02016,912,922 - 17,107,895 (-)NCBIUU_Cfam_GSD_1.0
Chl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049427,516,539 - 7,592,385 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936577474,143 - 544,022 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936577471,766 - 547,769 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1356,804,555 - 57,034,181 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11356,804,309 - 57,034,191 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21362,802,031 - 62,985,993 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12236,299,841 - 36,512,292 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2236,300,474 - 36,512,417 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041130,224,602 - 130,441,764 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477310,262,714 - 10,342,392 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477310,142,515 - 10,342,280 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHL1
134 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p26.3(chr3:76052-229025)x1 copy number loss See cases [RCV000050547] Chr3:76052..229025 [GRCh38]
Chr3:117735..270708 [GRCh37]
Chr3:92735..245708 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1 copy number loss See cases [RCV000051474] Chr3:52266..8582037 [GRCh38]
Chr3:93949..8623723 [GRCh37]
Chr3:68949..8598723 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1 copy number loss See cases [RCV000051475] Chr3:63843..6977502 [GRCh38]
Chr3:105526..7019189 [GRCh37]
Chr3:80526..6994189 [NCBI36]
Chr3:3p26.3-26.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1 copy number loss See cases [RCV000051476] Chr3:63843..9507969 [GRCh38]
Chr3:105526..9549653 [GRCh37]
Chr3:80526..9524653 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:63843-4708786)x1 copy number loss See cases [RCV000051477] Chr3:63843..4708786 [GRCh38]
Chr3:105526..4750470 [GRCh37]
Chr3:80526..4725470 [NCBI36]
Chr3:3p26.3-26.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1 copy number loss See cases [RCV000051478] Chr3:63843..8258109 [GRCh38]
Chr3:105526..8299796 [GRCh37]
Chr3:80526..8274796 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1 copy number loss See cases [RCV000051447] Chr3:52266..11089569 [GRCh38]
Chr3:93949..11131255 [GRCh37]
Chr3:68949..11106255 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3(chr3:63843-1209209)x3 copy number gain See cases [RCV000052895] Chr3:63843..1209209 [GRCh38]
Chr3:105526..1250893 [GRCh37]
Chr3:80526..1225893 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3(chr3:63843-325628)x3 copy number gain See cases [RCV000052896] Chr3:63843..325628 [GRCh38]
Chr3:105526..367311 [GRCh37]
Chr3:80526..342311 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3(chr3:245817-1097280)x3 copy number gain See cases [RCV000052897] Chr3:245817..1097280 [GRCh38]
Chr3:287500..1138964 [GRCh37]
Chr3:262500..1113964 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3(chr3:20521-1209209)x1 copy number loss See cases [RCV000053886] Chr3:20521..1209209 [GRCh38]
Chr3:62199..1250893 [GRCh37]
Chr3:37199..1225893 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3(chr3:171028-1018461)x1 copy number loss See cases [RCV000053887] Chr3:171028..1018461 [GRCh38]
Chr3:212711..1060145 [GRCh37]
Chr3:187711..1035145 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3(chr3:244617-1209150)x1 copy number loss See cases [RCV000053888] Chr3:244617..1209150 [GRCh38]
Chr3:286300..1250834 [GRCh37]
Chr3:261300..1225834 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3(chr3:296016-1562138)x1 copy number loss See cases [RCV000053889] Chr3:296016..1562138 [GRCh38]
Chr3:337699..1603822 [GRCh37]
Chr3:312699..1578822 [NCBI36]
Chr3:3p26.3		 uncertain significance
NM_006614.3(CHL1):c.1837C>T (p.Leu613=) single nucleotide variant Malignant melanoma [RCV000066060] Chr3:377903 [GRCh38]
Chr3:419586 [GRCh37]
Chr3:394586 [NCBI36]
Chr3:3p26.3		 not provided
NM_006614.3(CHL1):c.2329G>A (p.Glu777Lys) single nucleotide variant Malignant melanoma [RCV000066063] Chr3:389333 [GRCh38]
Chr3:431016 [GRCh37]
Chr3:406016 [NCBI36]
Chr3:3p26.3		 not provided
NM_006614.3(CHL1):c.2028G>A (p.Glu676=) single nucleotide variant Malignant melanoma [RCV000060819] Chr3:382523 [GRCh38]
Chr3:424206 [GRCh37]
Chr3:399206 [NCBI36]
Chr3:3p26.3		 not provided
NM_006614.3(CHL1):c.2232G>A (p.Met744Ile) single nucleotide variant Malignant melanoma [RCV000060820] Chr3:383871 [GRCh38]
Chr3:425554 [GRCh37]
Chr3:400554 [NCBI36]
Chr3:3p26.3		 not provided
NM_006614.4(CHL1):c.2690C>T (p.Ser897Phe) single nucleotide variant Inborn genetic diseases [RCV002705017] Chr3:391058 [GRCh38]
Chr3:432741 [GRCh37]
Chr3:407741 [NCBI36]
Chr3:3p26.3		 uncertain significance|not provided
NM_006614.3(CHL1):c.2713C>T (p.His905Tyr) single nucleotide variant Malignant melanoma [RCV000060822] Chr3:391081 [GRCh38]
Chr3:432764 [GRCh37]
Chr3:407764 [NCBI36]
Chr3:3p26.3		 not provided
NM_006614.3(CHL1):c.3493C>T (p.Arg1165Trp) single nucleotide variant Malignant melanoma [RCV000060823] Chr3:405529 [GRCh38]
Chr3:447212 [GRCh37]
Chr3:422212 [NCBI36]
Chr3:3p26.3		 not provided
NM_001253387.1(CHL1):c.-174-21946C>T single nucleotide variant Lung cancer [RCV000093502] Chr3:222667 [GRCh38]
Chr3:264350 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-26.1(chr3:73914-4331711) copy number loss Autism [RCV001291953] Chr3:73914..4331711 [GRCh37]
Chr3:3p26.3-26.1		 likely pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:73914-4356052) copy number loss Fetal growth restriction [RCV001797986] Chr3:73914..4356052 [GRCh37]
Chr3:3p26.3-26.1		 likely pathogenic
GRCh38/hg38 3p26.3(chr3:401550-1091944)x3 copy number gain See cases [RCV000133826] Chr3:401550..1091944 [GRCh38]
Chr3:443233..1133628 [GRCh37]
Chr3:418233..1108628 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3(chr3:190813-1155998)x1 copy number loss See cases [RCV000133743] Chr3:190813..1155998 [GRCh38]
Chr3:232496..1197682 [GRCh37]
Chr3:207496..1172682 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1 copy number loss See cases [RCV000134257] Chr3:32241..5791120 [GRCh38]
Chr3:73914..5832807 [GRCh37]
Chr3:48914..5807807 [NCBI36]
Chr3:3p26.3-26.1		 pathogenic
GRCh38/hg38 3p26.3(chr3:85837-296216)x3 copy number gain See cases [RCV000134260] Chr3:85837..296216 [GRCh38]
Chr3:127520..337899 [GRCh37]
Chr3:102520..312899 [NCBI36]
Chr3:3p26.3		 benign
GRCh38/hg38 3p26.3(chr3:52266-868393)x3 copy number gain See cases [RCV000134918] Chr3:52266..868393 [GRCh38]
Chr3:93949..910076 [GRCh37]
Chr3:68949..885076 [NCBI36]
Chr3:3p26.3		 pathogenic|likely benign
GRCh38/hg38 3p26.3(chr3:190813-2045586)x3 copy number gain See cases [RCV000135649] Chr3:190813..2045586 [GRCh38]
Chr3:232496..2087270 [GRCh37]
Chr3:207496..2062270 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1 copy number loss See cases [RCV000135586] Chr3:52266..5138262 [GRCh38]
Chr3:93949..5179947 [GRCh37]
Chr3:68949..5154947 [NCBI36]
Chr3:3p26.3-26.1		 pathogenic
GRCh38/hg38 3p26.3(chr3:228954-241339)x1 copy number loss See cases [RCV000136034] Chr3:228954..241339 [GRCh38]
Chr3:270637..283022 [GRCh37]
Chr3:245637..258022 [NCBI36]
Chr3:3p26.3		 conflicting data from submitters
GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1 copy number loss See cases [RCV000137109] Chr3:52266..9450310 [GRCh38]
Chr3:93949..9491994 [GRCh37]
Chr3:68949..9466994 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1 copy number loss See cases [RCV000136675] Chr3:52266..6277604 [GRCh38]
Chr3:93949..6319291 [GRCh37]
Chr3:68949..6294291 [NCBI36]
Chr3:3p26.3-26.1		 pathogenic
GRCh38/hg38 3p26.3(chr3:32241-1798654)x1 copy number loss See cases [RCV000138008] Chr3:32241..1798654 [GRCh38]
Chr3:73914..1840338 [GRCh37]
Chr3:48914..1815338 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1 copy number loss See cases [RCV000138552] Chr3:32241..6065999 [GRCh38]
Chr3:73914..6107686 [GRCh37]
Chr3:48914..6082686 [NCBI36]
Chr3:3p26.3-26.1		 pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1 copy number loss See cases [RCV000138287] Chr3:32241..7056717 [GRCh38]
Chr3:73914..7098404 [GRCh37]
Chr3:48914..7073404 [NCBI36]
Chr3:3p26.3-26.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 copy number loss See cases [RCV000138376] Chr3:32241..11379835 [GRCh38]
Chr3:73914..11421309 [GRCh37]
Chr3:48914..11396309 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic|likely benign
GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1 copy number loss See cases [RCV000139253] Chr3:32241..9469506 [GRCh38]
Chr3:73914..9511190 [GRCh37]
Chr3:48914..9486190 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)x1 copy number loss See cases [RCV000139436] Chr3:32241..3355776 [GRCh38]
Chr3:73914..3397460 [GRCh37]
Chr3:48914..3372460 [NCBI36]
Chr3:3p26.3-26.2		 likely pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1 copy number loss See cases [RCV000139164] Chr3:52747..8370373 [GRCh38]
Chr3:94430..8412059 [GRCh37]
Chr3:69430..8387059 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3(chr3:199392-241339)x1 copy number loss See cases [RCV000138931] Chr3:199392..241339 [GRCh38]
Chr3:241075..283022 [GRCh37]
Chr3:216075..258022 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1 copy number loss See cases [RCV000140239] Chr3:32241..9574994 [GRCh38]
Chr3:73914..9616678 [GRCh37]
Chr3:48914..9591678 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3(chr3:244643-270432)x1 copy number loss See cases [RCV000139746] Chr3:244643..270432 [GRCh38]
Chr3:286326..312115 [GRCh37]
Chr3:261326..287115 [NCBI36]
Chr3:3p26.3		 likely benign
GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3 copy number gain See cases [RCV000141319] Chr3:32241..8165256 [GRCh38]
Chr3:73914..8206943 [GRCh37]
Chr3:48914..8181943 [NCBI36]
Chr3:3p26.3-25.3		 likely pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1 copy number loss See cases [RCV000140848] Chr3:32241..9066287 [GRCh38]
Chr3:73914..9107971 [GRCh37]
Chr3:48914..9082971 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3(chr3:190813-213696)x3 copy number gain See cases [RCV000140566] Chr3:190813..213696 [GRCh38]
Chr3:232496..255379 [GRCh37]
Chr3:207496..230379 [NCBI36]
Chr3:3p26.3		 benign
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1 copy number loss See cases [RCV000141731] Chr3:20213..11221602 [GRCh38]
Chr3:61891..11263288 [GRCh37]
Chr3:36891..11238288 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3(chr3:20213-1755128)x1 copy number loss See cases [RCV000141686] Chr3:20213..1755128 [GRCh38]
Chr3:61891..1796812 [GRCh37]
Chr3:36891..1771812 [NCBI36]
Chr3:3p26.3		 likely benign|uncertain significance
GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1 copy number loss See cases [RCV000142284] Chr3:20213..9362037 [GRCh38]
Chr3:61891..9403721 [GRCh37]
Chr3:36891..9378721 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3(chr3:228966-241369)x3 copy number gain See cases [RCV000142383] Chr3:228966..241369 [GRCh38]
Chr3:270649..283052 [GRCh37]
Chr3:245649..258052 [NCBI36]
Chr3:3p26.3		 benign
GRCh38/hg38 3p26.3(chr3:144528-713567)x3 copy number gain See cases [RCV000142205] Chr3:144528..713567 [GRCh38]
Chr3:186211..755251 [GRCh37]
Chr3:161211..730251 [NCBI36]
Chr3:3p26.3		 likely benign|uncertain significance
GRCh38/hg38 3p26.3(chr3:199392-338596)x3 copy number gain See cases [RCV000142993] Chr3:199392..338596 [GRCh38]
Chr3:241075..380279 [GRCh37]
Chr3:216075..355279 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3(chr3:190587-608819)x1 copy number loss See cases [RCV000142624] Chr3:190587..608819 [GRCh38]
Chr3:232270..650502 [GRCh37]
Chr3:207270..625502 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3(chr3:52266-1091944)x1 copy number loss See cases [RCV000142583] Chr3:52266..1091944 [GRCh38]
Chr3:93949..1133628 [GRCh37]
Chr3:68949..1108628 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3-26.1(chr3:52266-4827490)x1 copy number loss See cases [RCV000142736] Chr3:52266..4827490 [GRCh38]
Chr3:93949..4869174 [GRCh37]
Chr3:68949..4844174 [NCBI36]
Chr3:3p26.3-26.1		 pathogenic
GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3 copy number gain See cases [RCV000142519] Chr3:52266..5966084 [GRCh38]
Chr3:93949..6007771 [GRCh37]
Chr3:68949..5982771 [NCBI36]
Chr3:3p26.3-26.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1 copy number loss See cases [RCV000143325] Chr3:32241..10323124 [GRCh38]
Chr3:73914..10364808 [GRCh37]
Chr3:48914..10339808 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3(chr3:182931-937659)x3 copy number gain See cases [RCV000143139] Chr3:182931..937659 [GRCh38]
Chr3:224614..979343 [GRCh37]
Chr3:199614..954343 [NCBI36]
Chr3:3p26.3		 likely benign|uncertain significance
GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1 copy number loss See cases [RCV000143173] Chr3:32241..10631310 [GRCh38]
Chr3:73914..10672995 [GRCh37]
Chr3:48914..10647995 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3(chr3:275343-1182519)x1 copy number loss See cases [RCV000143720] Chr3:275343..1182519 [GRCh38]
Chr3:317026..1224203 [GRCh37]
Chr3:292026..1199203 [NCBI36]
Chr3:3p26.3		 uncertain significance
GRCh38/hg38 3p26.3-26.2(chr3:20213-3244317)x1 copy number loss See cases [RCV000143693] Chr3:20213..3244317 [GRCh38]
Chr3:61891..3286001 [GRCh37]
Chr3:36891..3261001 [NCBI36]
Chr3:3p26.3-26.2		 uncertain significance
GRCh37/hg19 3p26.3(chr3:66894-2552565)x3 copy number gain Premature ovarian failure [RCV000225315] Chr3:66894..2552565 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:270649-431897)x1 copy number loss See cases [RCV000240416] Chr3:270649..431897 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-26.2(chr3:270649-3927005)x1 copy number loss See cases [RCV000240406] Chr3:270649..3927005 [GRCh37]
Chr3:3p26.3-26.2		 likely pathogenic
GRCh37/hg19 3p26.3(chr3:379470-1053840)x1 copy number loss See cases [RCV000447351] Chr3:379470..1053840 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3(chr3:282750-1287912)x1 copy number loss See cases [RCV000446557] Chr3:282750..1287912 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1241T>C (p.Val414Ala) single nucleotide variant CHL1-related condition [RCV003902491]|not specified [RCV000445095] Chr3:360359 [GRCh38]
Chr3:402042 [GRCh37]
Chr3:3p26.3		 likely benign
GRCh37/hg19 3p26.3(chr3:87137-1318515)x1 copy number loss See cases [RCV000448882] Chr3:87137..1318515 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3(chr3:315102-1125700)x1 copy number loss See cases [RCV000448753] Chr3:315102..1125700 [GRCh37]
Chr3:3p26.3		 likely pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-8600971)x1 copy number loss See cases [RCV000447756] Chr3:61891..8600971 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-7865381)x1 copy number loss See cases [RCV000510414] Chr3:61891..7865381 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3(chr3:61891-1421900)x1 copy number loss See cases [RCV000510159] Chr3:61891..1421900 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-4196715)x3 copy number gain See cases [RCV000511546] Chr3:61891..4196715 [GRCh37]
Chr3:3p26.3-26.1		 uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61891-8777555)x1 copy number loss See cases [RCV000511872] Chr3:61891..8777555 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1 copy number loss See cases [RCV000511155] Chr3:61891..12575409 [GRCh37]
Chr3:3p26.3-25.2		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-7456866)x1 copy number loss See cases [RCV000511041] Chr3:61891..7456866 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_006614.4(CHL1):c.974G>A (p.Arg325His) single nucleotide variant Inborn genetic diseases [RCV003275419] Chr3:349484 [GRCh38]
Chr3:391167 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.897G>C (p.Lys299Asn) single nucleotide variant Inborn genetic diseases [RCV003283206] Chr3:349407 [GRCh38]
Chr3:391090 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1234A>T (p.Thr412Ser) single nucleotide variant Inborn genetic diseases [RCV003288096] Chr3:360352 [GRCh38]
Chr3:402035 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855) copy number loss Global developmental delay [RCV000626532] Chr3:93949..5427855 [GRCh37]
Chr3:3p26.3-26.1		 likely pathogenic
NM_006614.4(CHL1):c.298A>G (p.Ile100Val) single nucleotide variant Inborn genetic diseases [RCV003272668] Chr3:328267 [GRCh38]
Chr3:369950 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.692A>C (p.Asn231Thr) single nucleotide variant Inborn genetic diseases [RCV003275418] Chr3:342996 [GRCh38]
Chr3:384679 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.424G>A (p.Glu142Lys) single nucleotide variant Inborn genetic diseases [RCV003277298] Chr3:340832 [GRCh38]
Chr3:382515 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.648G>C (p.Gln216His) single nucleotide variant Inborn genetic diseases [RCV003276599] Chr3:342051 [GRCh38]
Chr3:383734 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:61891-2447256)x1 copy number loss not provided [RCV000682173] Chr3:61891..2447256 [GRCh37]
Chr3:3p26.3		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-4098164)x1 copy number loss not provided [RCV000682174] Chr3:61891..4098164 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-5167964)x1 copy number loss not provided [RCV000682175] Chr3:61891..5167964 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-7486254)x1 copy number loss not provided [RCV000682177] Chr3:61891..7486254 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-7875536)x1 copy number loss not provided [RCV000682178] Chr3:61891..7875536 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-8173161)x1 copy number loss not provided [RCV000682179] Chr3:61891..8173161 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1 copy number loss not provided [RCV000682180] Chr3:61891..10104842 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3(chr3:71403-399110)x4 copy number gain not provided [RCV000682181] Chr3:71403..399110 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:441616-2770509)x1 copy number loss not provided [RCV000682195] Chr3:441616..2770509 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:61891-335877)x3 copy number gain not provided [RCV000682171] Chr3:61891..335877 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:61891-1891570)x1 copy number loss not provided [RCV000682172] Chr3:61891..1891570 [GRCh37]
Chr3:3p26.3		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-7032830)x1 copy number loss not provided [RCV000682176] Chr3:61891..7032830 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3(chr3:77040-431326)x3 copy number gain not provided [RCV000682182] Chr3:77040..431326 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:79966-431824)x3 copy number gain not provided [RCV000682183] Chr3:79966..431824 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:86203-433578)x3 copy number gain not provided [RCV000682184] Chr3:86203..433578 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:87137-374869)x3 copy number gain not provided [RCV000682185] Chr3:87137..374869 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:95356-1127033)x1 copy number loss not provided [RCV000682186] Chr3:95356..1127033 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:115780-320034)x1 copy number loss not provided [RCV000682187] Chr3:115780..320034 [GRCh37]
Chr3:3p26.3		 likely pathogenic
GRCh37/hg19 3p26.3(chr3:205861-1067569)x4 copy number gain not provided [RCV000682188] Chr3:205861..1067569 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:242240-556260)x1 copy number loss not provided [RCV000682189] Chr3:242240..556260 [GRCh37]
Chr3:3p26.3		 likely pathogenic
GRCh37/hg19 3p26.3(chr3:285805-318812)x1 copy number loss not provided [RCV000682190] Chr3:285805..318812 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:291529-768230)x4 copy number gain not provided [RCV000682191] Chr3:291529..768230 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:400612-556260)x3 copy number gain not provided [RCV000682193] Chr3:400612..556260 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:419092-552189)x3 copy number gain not provided [RCV000682194] Chr3:419092..552189 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:300896-763586)x3 copy number gain not provided [RCV000682192] Chr3:300896..763586 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
Single allele duplication Autism [RCV000754283] Chr3:54166..2405982 [GRCh38]
Chr3:3p26.3		 likely pathogenic
GRCh37/hg19 3p26.3-26.2(chr3:61495-3663278)x1 copy number loss not provided [RCV000742136] Chr3:61495..3663278 [GRCh37]
Chr3:3p26.3-26.2		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61495-4952779)x3 copy number gain not provided [RCV000742137] Chr3:61495..4952779 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3(chr3:185281-253799)x3 copy number gain not provided [RCV000742141] Chr3:185281..253799 [GRCh37]
Chr3:3p26.3		 benign
GRCh37/hg19 3p26.3(chr3:191245-1132072)x3 copy number gain not provided [RCV000742142] Chr3:191245..1132072 [GRCh37]
Chr3:3p26.3		 likely benign
GRCh37/hg19 3p26.3(chr3:285287-316417)x1 copy number loss not provided [RCV000742144] Chr3:285287..316417 [GRCh37]
Chr3:3p26.3		 benign
GRCh37/hg19 3p26.3(chr3:285287-1143424)x1 copy number loss not provided [RCV000742145] Chr3:285287..1143424 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:304511-354495)x1 copy number loss not provided [RCV000742146] Chr3:304511..354495 [GRCh37]
Chr3:3p26.3		 benign
GRCh37/hg19 3p26.3(chr3:422639-554312)x3 copy number gain not provided [RCV000742147] Chr3:422639..554312 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.1501A>G (p.Thr501Ala) single nucleotide variant CHL1-related condition [RCV003906037]|not provided [RCV000972233] Chr3:363299 [GRCh38]
Chr3:404982 [GRCh37]
Chr3:3p26.3		 benign|likely benign
NM_006614.4(CHL1):c.2373T>C (p.Pro791=) single nucleotide variant not provided [RCV000906686] Chr3:389377 [GRCh38]
Chr3:431060 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.648G>A (p.Gln216=) single nucleotide variant not provided [RCV000965625] Chr3:342051 [GRCh38]
Chr3:383734 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.3648T>G (p.Ser1216=) single nucleotide variant not provided [RCV000923323] Chr3:405684 [GRCh38]
Chr3:447367 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.2923A>T (p.Thr975Ser) single nucleotide variant not provided [RCV000973123] Chr3:394701 [GRCh38]
Chr3:436384 [GRCh37]
Chr3:3p26.3		 benign|likely benign
NM_006614.4(CHL1):c.2118C>T (p.Asn706=) single nucleotide variant not provided [RCV000982984] Chr3:382613 [GRCh38]
Chr3:424296 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.2100C>T (p.Phe700=) single nucleotide variant CHL1-related condition [RCV003912917]|not provided [RCV000904496] Chr3:382595 [GRCh38]
Chr3:424278 [GRCh37]
Chr3:3p26.3		 benign|likely benign
NM_006614.4(CHL1):c.2487A>G (p.Pro829=) single nucleotide variant not provided [RCV000905349] Chr3:390717 [GRCh38]
Chr3:432400 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.1306+10C>A single nucleotide variant CHL1-related condition [RCV003970548]|not provided [RCV000927362] Chr3:360434 [GRCh38]
Chr3:402117 [GRCh37]
Chr3:3p26.3		 benign|likely benign
NM_006614.4(CHL1):c.438A>C (p.Gly146=) single nucleotide variant not provided [RCV000969936] Chr3:340846 [GRCh38]
Chr3:382529 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.946G>A (p.Val316Ile) single nucleotide variant CHL1-related condition [RCV003940384]|not provided [RCV000879636] Chr3:349456 [GRCh38]
Chr3:391139 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.522C>T (p.Ile174=) single nucleotide variant not provided [RCV000925227] Chr3:341925 [GRCh38]
Chr3:383608 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.576C>T (p.Asn192=) single nucleotide variant not provided [RCV000927997] Chr3:341979 [GRCh38]
Chr3:383662 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.3570C>T (p.Leu1190=) single nucleotide variant not provided [RCV000903171] Chr3:405606 [GRCh38]
Chr3:447289 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.88T>G (p.Ser30Ala) single nucleotide variant not provided [RCV000946710] Chr3:319864 [GRCh38]
Chr3:361547 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.2520A>G (p.Thr840=) single nucleotide variant not provided [RCV000964455] Chr3:390750 [GRCh38]
Chr3:432433 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.1986T>C (p.Ile662=) single nucleotide variant not provided [RCV000920043] Chr3:382481 [GRCh38]
Chr3:424164 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.2278G>C (p.Gly760Arg) single nucleotide variant CHL1-related condition [RCV003906017]|not provided [RCV000971492] Chr3:389282 [GRCh38]
Chr3:430965 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.704C>T (p.Ser235Leu) single nucleotide variant CHL1-related condition [RCV003960811]|not provided [RCV000969452] Chr3:343008 [GRCh38]
Chr3:384691 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.279G>A (p.Arg93=) single nucleotide variant not provided [RCV000897943] Chr3:328248 [GRCh38]
Chr3:369931 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.240C>T (p.Asp80=) single nucleotide variant not provided [RCV000900927] Chr3:328209 [GRCh38]
Chr3:369892 [GRCh37]
Chr3:3p26.3		 likely benign
GRCh37/hg19 3p26.3-26.1(chr3:107776-5257572) copy number loss not provided [RCV000767705] Chr3:107776..5257572 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3(chr3:298102-2679515)x1 copy number loss not provided [RCV001005393] Chr3:298102..2679515 [GRCh37]
Chr3:3p26.3		 pathogenic
NM_006614.4(CHL1):c.204G>A (p.Ser68=) single nucleotide variant not provided [RCV000914314] Chr3:328173 [GRCh38]
Chr3:369856 [GRCh37]
Chr3:3p26.3		 benign
GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1 copy number loss not provided [RCV000848341] Chr3:61891..8269583 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3(chr3:61891-1242113)x1 copy number loss not provided [RCV000848347] Chr3:61891..1242113 [GRCh37]
Chr3:3p26.3		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787442] Chr3:36016..9307855 [GRCh37]
Chr3:3p26.3-25.3		 likely pathogenic
GRCh37/hg19 3p26.3(chr3:285805-318812)x1 copy number loss not provided [RCV000848848] Chr3:285805..318812 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:232786-1083386)x3 copy number gain not provided [RCV000847087] Chr3:232786..1083386 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1 copy number loss not provided [RCV001007530] Chr3:61891..10287825 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3(chr3:282750-354495)x1 copy number loss not provided [RCV001007531] Chr3:282750..354495 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:285805-318812)x1 copy number loss not provided [RCV000846691] Chr3:285805..318812 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.570C>T (p.Phe190=) single nucleotide variant CHL1-related condition [RCV003923215]|not provided [RCV000915085] Chr3:341973 [GRCh38]
Chr3:383656 [GRCh37]
Chr3:3p26.3		 likely benign
GRCh37/hg19 3p26.3(chr3:61891-1717877)x1 copy number loss not provided [RCV001005391] Chr3:61891..1717877 [GRCh37]
Chr3:3p26.3		 likely pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-6067006)x1 copy number loss not provided [RCV000849206] Chr3:61891..6067006 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1 copy number loss not provided [RCV000848339] Chr3:61891..8269583 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
GRCh37/hg19 3p26.3(chr3:285805-1139252)x1 copy number loss not provided [RCV000848940] Chr3:285805..1139252 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.3012G>A (p.Lys1004=) single nucleotide variant not provided [RCV000975487] Chr3:394790 [GRCh38]
Chr3:436473 [GRCh37]
Chr3:3p26.3		 likely benign
GRCh37/hg19 3p26.3(chr3:232625-1090551)x1 copy number loss not provided [RCV000849980] Chr3:232625..1090551 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:401718-1575889)x1 copy number loss not provided [RCV000849095] Chr3:401718..1575889 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:326726-563399)x3 copy number gain not provided [RCV001007532] Chr3:326726..563399 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:419092-547428)x3 copy number gain not provided [RCV000846251] Chr3:419092..547428 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:61891-271907)x1 copy number loss not provided [RCV001007541] Chr3:61891..271907 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:224614-2098310)x3 copy number gain not provided [RCV000846533] Chr3:224614..2098310 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:401718-489528)x3 copy number gain not provided [RCV000846922] Chr3:401718..489528 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:198463-248206)x3 copy number gain not provided [RCV000847293] Chr3:198463..248206 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:61891-1035503)x3 copy number gain not provided [RCV000845813] Chr3:61891..1035503 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:429176-730529)x3 copy number gain not provided [RCV001005394] Chr3:429176..730529 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2779A>G (p.Thr927Ala) single nucleotide variant Inborn genetic diseases [RCV003291751] Chr3:391147 [GRCh38]
Chr3:432830 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.853A>T (p.Thr285Ser) single nucleotide variant Inborn genetic diseases [RCV003249991] Chr3:349363 [GRCh38]
Chr3:391046 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.3131C>T (p.Thr1044Ile) single nucleotide variant Inborn genetic diseases [RCV003274919] Chr3:398263 [GRCh38]
Chr3:439946 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2928C>T (p.Tyr976=) single nucleotide variant not provided [RCV000932294] Chr3:394706 [GRCh38]
Chr3:436389 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.1706G>A (p.Ser569Asn) single nucleotide variant CHL1-related condition [RCV003923243]|not provided [RCV000916855] Chr3:366070 [GRCh38]
Chr3:407753 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.385+9T>G single nucleotide variant CHL1-related condition [RCV003895402]|not provided [RCV000879520] Chr3:328363 [GRCh38]
Chr3:370046 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.2586+12_2586+14del microsatellite not provided [RCV000974960] Chr3:390823..390825 [GRCh38]
Chr3:432506..432508 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.1034-4C>T single nucleotide variant CHL1-related condition [RCV003970625]|not provided [RCV000941799] Chr3:354636 [GRCh38]
Chr3:396319 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.1350T>C (p.Ala450=) single nucleotide variant CHL1-related condition [RCV003968329]|not provided [RCV000906481] Chr3:361742 [GRCh38]
Chr3:403425 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.1797A>T (p.Leu599Phe) single nucleotide variant CHL1-related condition [RCV003975550]|not provided [RCV000882576] Chr3:377863 [GRCh38]
Chr3:419546 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.92-3T>A single nucleotide variant CHL1-related condition [RCV003935817]|not provided [RCV000953470] Chr3:325956 [GRCh38]
Chr3:367639 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.3165G>A (p.Pro1055=) single nucleotide variant not provided [RCV000935330] Chr3:398297 [GRCh38]
Chr3:439980 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.3458+6C>T single nucleotide variant not provided [RCV000891169] Chr3:401704 [GRCh38]
Chr3:443387 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.36A>G (p.Val12=) single nucleotide variant not provided [RCV000935876] Chr3:319812 [GRCh38]
Chr3:361495 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.1395T>C (p.Ala465=) single nucleotide variant not provided [RCV000889462] Chr3:361787 [GRCh38]
Chr3:403470 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.1306+10C>T single nucleotide variant not provided [RCV000890887] Chr3:360434 [GRCh38]
Chr3:402117 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.28C>G (p.Leu10Val) single nucleotide variant CHL1-related condition [RCV003920749]|not provided [RCV000890932] Chr3:319804 [GRCh38]
Chr3:361487 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.3253+10G>C single nucleotide variant not provided [RCV000913051] Chr3:398395 [GRCh38]
Chr3:440078 [GRCh37]
Chr3:3p26.3		 likely benign
GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3 copy number gain not provided [RCV002468435] Chr3:60931..10687964 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1 copy number loss not provided [RCV002473616] Chr3:61892..11679509 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-26.2(chr3:224614-2878047)x3 copy number gain not provided [RCV001005392] Chr3:224614..2878047 [GRCh37]
Chr3:3p26.3-26.2		 uncertain significance
GRCh37/hg19 3p26.3(chr3:295737-354495)x1 copy number loss not provided [RCV001007539] Chr3:295737..354495 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:79966-295418)x4 copy number gain not provided [RCV001007542] Chr3:79966..295418 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-26.1(chr3:60001-8472742)x1 copy number loss not provided [RCV001537925] Chr3:60001..8472742 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
NM_006614.4(CHL1):c.5A>G (p.Glu2Gly) single nucleotide variant Seizure [RCV001262903] Chr3:319781 [GRCh38]
Chr3:361464 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:61891-285783)x3 copy number gain not provided [RCV001258606] Chr3:61891..285783 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:353990-730529)x3 copy number gain not provided [RCV001258594] Chr3:353990..730529 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:234923-473605)x3 copy number gain not provided [RCV001258597] Chr3:234923..473605 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:227001-2211981) copy number gain See cases [RCV001263038] Chr3:227001..2211981 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:319825-1079859)x1 copy number loss not provided [RCV001258611] Chr3:319825..1079859 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:115780-298012)x3 copy number gain not provided [RCV001258600] Chr3:115780..298012 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:317853-979343)x3 copy number gain not provided [RCV001258604] Chr3:317853..979343 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-26.1(chr3:73914-5940479) copy number loss Abnormal brain morphology [RCV001352655] Chr3:73914..5940479 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
NM_006614.4(CHL1):c.323G>A (p.Arg108His) single nucleotide variant not provided [RCV001433751] Chr3:328292 [GRCh38]
Chr3:369975 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.3314C>T (p.Ala1105Val) single nucleotide variant not provided [RCV001475542] Chr3:399077 [GRCh38]
Chr3:440760 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.2647A>G (p.Ile883Val) single nucleotide variant Inborn genetic diseases [RCV002561302]|not provided [RCV001469301] Chr3:391015 [GRCh38]
Chr3:432698 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.2297C>A (p.Thr766Asn) single nucleotide variant Inborn genetic diseases [RCV002559307]|not provided [RCV001443545] Chr3:389301 [GRCh38]
Chr3:430984 [GRCh37]
Chr3:3p26.3		 likely benign|uncertain significance
NM_006614.4(CHL1):c.323G>T (p.Arg108Leu) single nucleotide variant not provided [RCV001439034] Chr3:328292 [GRCh38]
Chr3:369975 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.128T>C (p.Val43Ala) single nucleotide variant Inborn genetic diseases [RCV002560362]|not provided [RCV001460548] Chr3:325995 [GRCh38]
Chr3:367678 [GRCh37]
Chr3:3p26.3		 likely benign|uncertain significance
NM_006614.4(CHL1):c.3167G>C (p.Gly1056Ala) single nucleotide variant not provided [RCV001425608] Chr3:398299 [GRCh38]
Chr3:439982 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.1852G>A (p.Asp618Asn) single nucleotide variant Inborn genetic diseases [RCV002551607]|not provided [RCV001393677] Chr3:377918 [GRCh38]
Chr3:419601 [GRCh37]
Chr3:3p26.3		 likely benign|uncertain significance
NM_006614.4(CHL1):c.2965C>G (p.Pro989Ala) single nucleotide variant Inborn genetic diseases [RCV003275401] Chr3:394743 [GRCh38]
Chr3:436426 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:232786-1242226) copy number loss not specified [RCV002053301] Chr3:232786..1242226 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3(chr3:282750-1287912) copy number loss not specified [RCV002053302] Chr3:282750..1287912 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:285805-318812) copy number loss not specified [RCV002053304] Chr3:285805..318812 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:61892-353163)x3 copy number gain not provided [RCV001827725] Chr3:61892..353163 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:282750-2091065)x1 copy number loss not provided [RCV001825180] Chr3:282750..2091065 [GRCh37]
Chr3:3p26.3		 not provided
GRCh37/hg19 3p26.3(chr3:430682-730529)x3 copy number gain not provided [RCV001827690] Chr3:430682..730529 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094) copy number loss not specified [RCV002053298] Chr3:61891..9797094 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3(chr3:285805-317854)x1 copy number loss not provided [RCV001834504] Chr3:285805..317854 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:363253-1501006) copy number loss not specified [RCV002053305] Chr3:363253..1501006 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3(chr3:379470-1053840) copy number loss not specified [RCV002053306] Chr3:379470..1053840 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.197+10G>C single nucleotide variant CHL1-related condition [RCV003984243]|not provided [RCV002222841] Chr3:326074 [GRCh38]
Chr3:367757 [GRCh37]
Chr3:3p26.3		 benign
GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1 copy number loss not provided [RCV002472571] Chr3:61892..9899605 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
NM_006614.4(CHL1):c.1315C>G (p.Pro439Ala) single nucleotide variant Inborn genetic diseases [RCV003280830] Chr3:361707 [GRCh38]
Chr3:403390 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1606T>G (p.Ser536Ala) single nucleotide variant Inborn genetic diseases [RCV003304757] Chr3:365970 [GRCh38]
Chr3:407653 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1051A>G (p.Lys351Glu) single nucleotide variant Inborn genetic diseases [RCV003284404] Chr3:354657 [GRCh38]
Chr3:396340 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2113G>A (p.Val705Met) single nucleotide variant Inborn genetic diseases [RCV003257107] Chr3:382608 [GRCh38]
Chr3:424291 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1600A>G (p.Arg534Gly) single nucleotide variant Inborn genetic diseases [RCV003280558] Chr3:365964 [GRCh38]
Chr3:407647 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.767C>T (p.Pro256Leu) single nucleotide variant Inborn genetic diseases [RCV003257294] Chr3:344628 [GRCh38]
Chr3:386311 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.95A>G (p.Gln32Arg) single nucleotide variant Inborn genetic diseases [RCV003264956] Chr3:325962 [GRCh38]
Chr3:367645 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1 copy number loss not provided [RCV002472587] Chr3:61892..9769457 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-26.2(chr3:61892-3459560)x1 copy number loss not provided [RCV002474649] Chr3:61892..3459560 [GRCh37]
Chr3:3p26.3-26.2		 uncertain significance
NM_006614.4(CHL1):c.1647A>C (p.Glu549Asp) single nucleotide variant Inborn genetic diseases [RCV002733057] Chr3:366011 [GRCh38]
Chr3:407694 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1217A>G (p.Asn406Ser) single nucleotide variant Inborn genetic diseases [RCV002946656] Chr3:360335 [GRCh38]
Chr3:402018 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1301T>C (p.Val434Ala) single nucleotide variant Inborn genetic diseases [RCV002864992] Chr3:360419 [GRCh38]
Chr3:402102 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1450G>A (p.Gly484Ser) single nucleotide variant Inborn genetic diseases [RCV002837284] Chr3:363248 [GRCh38]
Chr3:404931 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.671T>C (p.Val224Ala) single nucleotide variant Inborn genetic diseases [RCV002992214] Chr3:342074 [GRCh38]
Chr3:383757 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1949C>A (p.Ala650Asp) single nucleotide variant Inborn genetic diseases [RCV002906246] Chr3:382251 [GRCh38]
Chr3:423934 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2387C>G (p.Pro796Arg) single nucleotide variant Inborn genetic diseases [RCV002749098] Chr3:389391 [GRCh38]
Chr3:431074 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1559C>T (p.Ala520Val) single nucleotide variant Inborn genetic diseases [RCV002840158] Chr3:363357 [GRCh38]
Chr3:405040 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.3373G>A (p.Gly1125Arg) single nucleotide variant Inborn genetic diseases [RCV002682387] Chr3:399136 [GRCh38]
Chr3:440819 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1204A>G (p.Ile402Val) single nucleotide variant Inborn genetic diseases [RCV002883060] Chr3:360322 [GRCh38]
Chr3:402005 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2000G>T (p.Gly667Val) single nucleotide variant Inborn genetic diseases [RCV002689797] Chr3:382495 [GRCh38]
Chr3:424178 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.3529G>A (p.Ala1177Thr) single nucleotide variant Inborn genetic diseases [RCV002687068] Chr3:405565 [GRCh38]
Chr3:447248 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2982G>C (p.Trp994Cys) single nucleotide variant Inborn genetic diseases [RCV002886802] Chr3:394760 [GRCh38]
Chr3:436443 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.595C>T (p.Arg199Cys) single nucleotide variant Inborn genetic diseases [RCV002704497] Chr3:341998 [GRCh38]
Chr3:383681 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1808G>C (p.Gly603Ala) single nucleotide variant Inborn genetic diseases [RCV002738713] Chr3:377874 [GRCh38]
Chr3:419557 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2524G>C (p.Val842Leu) single nucleotide variant Inborn genetic diseases [RCV002888614] Chr3:390754 [GRCh38]
Chr3:432437 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1553A>C (p.Lys518Thr) single nucleotide variant Inborn genetic diseases [RCV002869417] Chr3:363351 [GRCh38]
Chr3:405034 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2858G>A (p.Gly953Glu) single nucleotide variant Inborn genetic diseases [RCV002662043] Chr3:391741 [GRCh38]
Chr3:433424 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.194C>T (p.Pro65Leu) single nucleotide variant Inborn genetic diseases [RCV002644970] Chr3:326061 [GRCh38]
Chr3:367744 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2825A>C (p.Lys942Thr) single nucleotide variant Inborn genetic diseases [RCV002788391] Chr3:391708 [GRCh38]
Chr3:433391 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2824A>G (p.Lys942Glu) single nucleotide variant Inborn genetic diseases [RCV002640888] Chr3:391707 [GRCh38]
Chr3:433390 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2569C>T (p.Arg857Cys) single nucleotide variant Inborn genetic diseases [RCV002699613] Chr3:390799 [GRCh38]
Chr3:432482 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1156C>A (p.Pro386Thr) single nucleotide variant Inborn genetic diseases [RCV002698560] Chr3:354762 [GRCh38]
Chr3:396445 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1573T>G (p.Leu525Val) single nucleotide variant Inborn genetic diseases [RCV002916958] Chr3:363371 [GRCh38]
Chr3:405054 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2077G>A (p.Ala693Thr) single nucleotide variant Inborn genetic diseases [RCV002896974] Chr3:382572 [GRCh38]
Chr3:424255 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2204G>T (p.Arg735Met) single nucleotide variant Inborn genetic diseases [RCV002808540] Chr3:383843 [GRCh38]
Chr3:425526 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1504G>A (p.Glu502Lys) single nucleotide variant not provided [RCV002962038] Chr3:363302 [GRCh38]
Chr3:404985 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.658A>G (p.Met220Val) single nucleotide variant Inborn genetic diseases [RCV002855669] Chr3:342061 [GRCh38]
Chr3:383744 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.3604G>A (p.Ala1202Thr) single nucleotide variant Inborn genetic diseases [RCV002963771] Chr3:405640 [GRCh38]
Chr3:447323 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1837C>G (p.Leu613Val) single nucleotide variant Inborn genetic diseases [RCV002921521] Chr3:377903 [GRCh38]
Chr3:419586 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.3478C>A (p.Leu1160Ile) single nucleotide variant Inborn genetic diseases [RCV002919888] Chr3:405514 [GRCh38]
Chr3:447197 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.3153G>C (p.Glu1051Asp) single nucleotide variant CHL1-related condition [RCV003926582]|not provided [RCV002943047] Chr3:398285 [GRCh38]
Chr3:439968 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.998G>C (p.Gly333Ala) single nucleotide variant Inborn genetic diseases [RCV002679330] Chr3:349508 [GRCh38]
Chr3:391191 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1940C>T (p.Thr647Ile) single nucleotide variant Inborn genetic diseases [RCV003299304] Chr3:382242 [GRCh38]
Chr3:423925 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.3602A>C (p.Tyr1201Ser) single nucleotide variant Inborn genetic diseases [RCV003175030] Chr3:405638 [GRCh38]
Chr3:447321 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2414A>G (p.Asn805Ser) single nucleotide variant Inborn genetic diseases [RCV003200350] Chr3:389418 [GRCh38]
Chr3:431101 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2666A>G (p.Gln889Arg) single nucleotide variant Inborn genetic diseases [RCV003174488] Chr3:391034 [GRCh38]
Chr3:432717 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1357G>C (p.Val453Leu) single nucleotide variant Inborn genetic diseases [RCV003205217] Chr3:361749 [GRCh38]
Chr3:403432 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2404C>A (p.Gln802Lys) single nucleotide variant Inborn genetic diseases [RCV003300709] Chr3:389408 [GRCh38]
Chr3:431091 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1085G>T (p.Ser362Ile) single nucleotide variant Inborn genetic diseases [RCV003206364] Chr3:354691 [GRCh38]
Chr3:396374 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.758T>A (p.Leu253Gln) single nucleotide variant CHL1-related condition [RCV003397379] Chr3:344619 [GRCh38]
Chr3:386302 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2686C>T (p.Pro896Ser) single nucleotide variant Inborn genetic diseases [RCV003356874] Chr3:391054 [GRCh38]
Chr3:432737 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1963A>G (p.Asn655Asp) single nucleotide variant Inborn genetic diseases [RCV003381721] Chr3:382265 [GRCh38]
Chr3:423948 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1964A>C (p.Asn655Thr) single nucleotide variant Inborn genetic diseases [RCV003381722] Chr3:382266 [GRCh38]
Chr3:423949 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1351A>G (p.Thr451Ala) single nucleotide variant Inborn genetic diseases [RCV003344702] Chr3:361743 [GRCh38]
Chr3:403426 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.7C>A (p.Pro3Thr) single nucleotide variant Inborn genetic diseases [RCV003347300] Chr3:319783 [GRCh38]
Chr3:361466 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.3259G>T (p.Ala1087Ser) single nucleotide variant Inborn genetic diseases [RCV003386267] Chr3:399022 [GRCh38]
Chr3:440705 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:319826-979343)x1 copy number loss not provided [RCV003485338] Chr3:319826..979343 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:285806-1510822)x3 copy number gain not provided [RCV003484106] Chr3:285806..1510822 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
GRCh37/hg19 3p26.3(chr3:255826-467157)x3 copy number gain not provided [RCV003484105] Chr3:255826..467157 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-26.1(chr3:61892-6743581)x1 copy number loss not provided [RCV003485327] Chr3:61892..6743581 [GRCh37]
Chr3:3p26.3-26.1		 uncertain significance
GRCh37/hg19 3p26.3(chr3:61892-399110)x3 copy number gain not provided [RCV003484104] Chr3:61892..399110 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.849-3C>T single nucleotide variant not provided [RCV003427277] Chr3:349356 [GRCh38]
Chr3:391039 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.1978+4G>A single nucleotide variant not provided [RCV003427278] Chr3:382284 [GRCh38]
Chr3:423967 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.2281C>T (p.Leu761=) single nucleotide variant not provided [RCV003427279] Chr3:389285 [GRCh38]
Chr3:430968 [GRCh37]
Chr3:3p26.3		 benign
Single allele deletion not provided [RCV003448694] Chr3:61434..7264917 [GRCh37]
Chr3:3p26.3-26.1		 pathogenic
Single allele deletion not provided [RCV003448703] Chr3:61435..9944653 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
NC_000003.11:g.(370038_382476)_(436556_439909)dup duplication not specified [RCV003388400] Chr3:382476..436556 [GRCh37]
Chr3:3p26.3		 uncertain significance
NM_006614.4(CHL1):c.2388T>G (p.Pro796=) single nucleotide variant not provided [RCV003548453] Chr3:389392 [GRCh38]
Chr3:431075 [GRCh37]
Chr3:3p26.3		 likely benign
GRCh37/hg19 3p26.3(chr3:262774-310273)x1 copy number loss not specified [RCV003986444] Chr3:262774..310273 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:285805-698064)x1 copy number loss not specified [RCV003986404] Chr3:285805..698064 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:224614-1079629)x3 copy number gain not specified [RCV003986408] Chr3:224614..1079629 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:61892-1584466)x1 copy number loss not specified [RCV003986467] Chr3:61892..1584466 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:71403-1079629)x3 copy number gain not specified [RCV003986443] Chr3:71403..1079629 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3(chr3:247680-300799)x3 copy number gain not specified [RCV003986399] Chr3:247680..300799 [GRCh37]
Chr3:3p26.3		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_006614.4(CHL1):c.155A>G (p.Tyr52Cys) single nucleotide variant CHL1-related condition [RCV003903985] Chr3:326022 [GRCh38]
Chr3:367705 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.2655A>G (p.Arg885=) single nucleotide variant CHL1-related condition [RCV003981819] Chr3:391023 [GRCh38]
Chr3:432706 [GRCh37]
Chr3:3p26.3		 likely benign
GRCh37/hg19 3p26.3-26.2(chr3:299538-2928908)x4 copy number gain not provided [RCV003885502] Chr3:299538..2928908 [GRCh37]
Chr3:3p26.3-26.2		 uncertain significance
NM_006614.4(CHL1):c.3104T>C (p.Ile1035Thr) single nucleotide variant CHL1-related condition [RCV003976983] Chr3:398236 [GRCh38]
Chr3:439919 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.3564T>C (p.His1188=) single nucleotide variant CHL1-related condition [RCV003937287] Chr3:405600 [GRCh38]
Chr3:447283 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.1851C>T (p.Ala617=) single nucleotide variant not provided [RCV003885126] Chr3:377917 [GRCh38]
Chr3:419600 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.49C>T (p.Leu17Phe) single nucleotide variant CHL1-related condition [RCV003979604] Chr3:319825 [GRCh38]
Chr3:361508 [GRCh37]
Chr3:3p26.3		 benign
NM_006614.4(CHL1):c.2172A>G (p.Pro724=) single nucleotide variant CHL1-related condition [RCV003974146] Chr3:382667 [GRCh38]
Chr3:424350 [GRCh37]
Chr3:3p26.3		 likely benign
NM_006614.4(CHL1):c.679+7C>T single nucleotide variant CHL1-related condition [RCV003967313] Chr3:342089 [GRCh38]
Chr3:383772 [GRCh37]
Chr3:3p26.3		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR10Ahsa-miR-10a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22634495
MIR10Ahsa-miR-10a-5pOncomiRDBexternal_infoNANA22634495

Predicted Target Of
Summary Value
Count of predictions:4355
Count of miRNA genes:1386
Interacting mature miRNAs:1828
Transcripts:ENST00000256509, ENST00000397491, ENST00000421198, ENST00000427688, ENST00000435603, ENST00000445697, ENST00000449294, ENST00000453040, ENST00000461289, ENST00000470005, ENST00000470880, ENST00000471332, ENST00000481167, ENST00000486881, ENST00000489224
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D3S4559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373256,559 - 256,744UniSTSGRCh37
Build 363231,559 - 231,744RGDNCBI36
Celera3201,956 - 202,141RGD
Cytogenetic Map3p26UniSTS
Cytogenetic Map3p26.1UniSTS
HuRef3202,111 - 202,300UniSTS
Marshfield Genetic Map31.32RGD
Marshfield Genetic Map31.32UniSTS
deCODE Assembly Map31.06UniSTS
GeneMap99-GB4 RH Map30.0UniSTS
Whitehead-RH Map30.0UniSTS
WI-5378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373251,887 - 252,086UniSTSGRCh37
Build 363226,887 - 227,086RGDNCBI36
Celera3197,284 - 197,483RGD
Cytogenetic Map3p26.1UniSTS
HuRef3197,439 - 197,638UniSTS
Whitehead-RH Map39.8UniSTS
SHGC-76660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373404,933 - 405,169UniSTSGRCh37
Build 363379,933 - 380,169RGDNCBI36
Celera3350,162 - 350,398RGD
Cytogenetic Map3p26.1UniSTS
HuRef3350,480 - 350,716UniSTS
TNG Radiation Hybrid Map3129.0UniSTS
GeneMap99-GB4 RH Map310.86UniSTS
NCBI RH Map348.4UniSTS
WI-13429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373450,932 - 451,075UniSTSGRCh37
Build 363425,932 - 426,075RGDNCBI36
Celera3396,161 - 396,304RGD
Cytogenetic Map3p26.1UniSTS
HuRef3396,500 - 396,643UniSTS
GeneMap99-GB4 RH Map36.55UniSTS
Whitehead-RH Map39.1UniSTS
NCBI RH Map368.3UniSTS
WI-18532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373450,941 - 451,075UniSTSGRCh37
Build 363425,941 - 426,075RGDNCBI36
Celera3396,170 - 396,304RGD
Cytogenetic Map3p26.1UniSTS
HuRef3396,509 - 396,643UniSTS
GeneMap99-GB4 RH Map310.45UniSTS
Whitehead-RH Map38.0UniSTS
RH119319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373284,899 - 285,225UniSTSGRCh37
Build 363259,899 - 260,225RGDNCBI36
Celera3230,296 - 230,622RGD
Cytogenetic Map3p26.1UniSTS
HuRef3230,542 - 230,868UniSTS
TNG Radiation Hybrid Map3176.0UniSTS
D3S2359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373342,678 - 342,880UniSTSGRCh37
Build 363317,678 - 317,880RGDNCBI36
Celera3287,926 - 288,128RGD
Cytogenetic Map3p26.1UniSTS
HuRef3288,309 - 288,511UniSTS
D3S2955E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373449,890 - 450,028UniSTSGRCh37
Build 363424,890 - 425,028RGDNCBI36
Celera3395,119 - 395,257RGD
Cytogenetic Map3p26.1UniSTS
HuRef3395,458 - 395,596UniSTS
D3S2964E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373449,055 - 449,170UniSTSGRCh37
Build 363424,055 - 424,170RGDNCBI36
Celera3394,284 - 394,399RGD
Cytogenetic Map3p26.1UniSTS
HuRef3394,623 - 394,738UniSTS
D3S3491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373449,616 - 449,716UniSTSGRCh37
Build 363424,616 - 424,716RGDNCBI36
Celera3394,845 - 394,945RGD
Cytogenetic Map3p26.1UniSTS
HuRef3395,184 - 395,284UniSTS
D3S1343E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373450,031 - 450,090UniSTSGRCh37
Build 363425,031 - 425,090RGDNCBI36
Celera3395,260 - 395,319RGD
Cytogenetic Map3p26.1UniSTS
HuRef3395,599 - 395,658UniSTS
STS-H05873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373449,531 - 449,675UniSTSGRCh37
Build 363424,531 - 424,675RGDNCBI36
Celera3394,760 - 394,904RGD
Cytogenetic Map3p26.1UniSTS
HuRef3395,099 - 395,243UniSTS
GeneMap99-GB4 RH Map36.55UniSTS
SHGC-76658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373450,030 - 450,120UniSTSGRCh37
Build 363425,030 - 425,120RGDNCBI36
Celera3395,259 - 395,349RGD
Cytogenetic Map3p26.1UniSTS
HuRef3395,598 - 395,688UniSTS
TNG Radiation Hybrid Map396.0UniSTS
GeneMap99-GB4 RH Map314.81UniSTS
NCBI RH Map364.9UniSTS
D3S3938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373368,814 - 369,018UniSTSGRCh37
Build 363343,814 - 344,018RGDNCBI36
Celera3314,041 - 314,245RGD
Cytogenetic Map3p26.1UniSTS
HuRef3314,513 - 314,717UniSTS
Whitehead-RH Map39.8UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S3190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373328,339 - 329,442UniSTSGRCh37
Celera3273,587 - 274,690UniSTS
Cytogenetic Map3p26.1UniSTS
HuRef3273,969 - 275,072UniSTS


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 756 129 21 17 258 4 1326 300 2273 71 237 60 13 238 971
Low 1502 1443 1134 212 663 63 1841 893 1398 235 1050 1269 152 1 965 829
Below cutoff 57 1384 434 284 837 283 1083 957 17 65 82 156 2 1 987 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001253387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001253388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC066595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF002246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF056756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA778898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R40400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000256509   ⟹   ENSP00000256509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,763 - 409,417 (+)Ensembl
RefSeq Acc Id: ENST00000397491   ⟹   ENSP00000380628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,771 - 406,852 (+)Ensembl
RefSeq Acc Id: ENST00000421198   ⟹   ENSP00000413628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,290 - 328,259 (+)Ensembl
RefSeq Acc Id: ENST00000427688   ⟹   ENSP00000403311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,783 - 326,064 (+)Ensembl
RefSeq Acc Id: ENST00000435603   ⟹   ENSP00000397445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3198,007 - 341,946 (+)Ensembl
RefSeq Acc Id: ENST00000445697   ⟹   ENSP00000395239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3389,445 - 405,739 (+)Ensembl
RefSeq Acc Id: ENST00000449294   ⟹   ENSP00000390440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3217,535 - 328,223 (+)Ensembl
RefSeq Acc Id: ENST00000453040   ⟹   ENSP00000413109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,644 - 399,148 (+)Ensembl
RefSeq Acc Id: ENST00000461289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3319,804 - 328,458 (+)Ensembl
RefSeq Acc Id: ENST00000470005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3382,186 - 384,665 (+)Ensembl
RefSeq Acc Id: ENST00000470880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3373,596 - 389,340 (+)Ensembl
RefSeq Acc Id: ENST00000471332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3361,698 - 363,502 (+)Ensembl
RefSeq Acc Id: ENST00000481167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,771 - 246,856 (+)Ensembl
RefSeq Acc Id: ENST00000486881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3198,014 - 213,679 (+)Ensembl
RefSeq Acc Id: ENST00000489224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,643 - 248,601 (+)Ensembl
RefSeq Acc Id: ENST00000620033   ⟹   ENSP00000483512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3319,683 - 409,412 (+)Ensembl
RefSeq Acc Id: NM_001253387   ⟹   NP_001240316
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,763 - 409,417 (+)NCBI
GRCh373238,279 - 451,100 (+)NCBI
HuRef3183,830 - 396,668 (+)NCBI
CHM1_13181,916 - 401,107 (+)NCBI
T2T-CHM13v2.03188,582 - 401,277 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001253388   ⟹   NP_001240317
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383319,683 - 409,417 (+)NCBI
GRCh373238,279 - 451,100 (+)NCBI
HuRef3183,830 - 396,668 (+)NCBI
CHM1_13311,268 - 401,107 (+)NCBI
T2T-CHM13v2.03311,512 - 401,277 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006614   ⟹   NP_006605
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,763 - 409,417 (+)NCBI
GRCh373238,279 - 451,100 (+)NCBI
Build 363213,650 - 426,098 (+)NCBI Archive
HuRef3183,830 - 396,668 (+)NCBI
CHM1_13181,916 - 401,107 (+)NCBI
T2T-CHM13v2.03188,582 - 401,277 (+)NCBI
Sequence:
RefSeq Acc Id: NR_045572
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,889 - 248,601 (+)NCBI
GRCh373238,279 - 451,100 (+)NCBI
HuRef3183,830 - 396,668 (+)NCBI
CHM1_13182,963 - 233,918 (+)NCBI
T2T-CHM13v2.03189,708 - 240,420 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712938   ⟹   XP_006713001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,307 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712939   ⟹   XP_006713002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,763 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712940   ⟹   XP_006713003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,889 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533292   ⟹   XP_011531594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,889 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533294   ⟹   XP_011531596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,307 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533295   ⟹   XP_011531597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,889 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533296   ⟹   XP_011531598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,307 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005566   ⟹   XP_016861055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,763 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005567   ⟹   XP_016861056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,307 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005569   ⟹   XP_016861058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,763 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005570   ⟹   XP_016861059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,889 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005571   ⟹   XP_016861060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,307 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005572   ⟹   XP_016861061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,763 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005573   ⟹   XP_016861062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,763 - 409,417 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447335   ⟹   XP_047303291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,307 - 409,417 (+)NCBI
RefSeq Acc Id: XM_054344991   ⟹   XP_054200966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,931 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054344992   ⟹   XP_054200967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03189,708 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054344993   ⟹   XP_054200968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,582 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054344994   ⟹   XP_054200969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,931 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054344995   ⟹   XP_054200970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03189,708 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054344996   ⟹   XP_054200971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03283,305 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054344997   ⟹   XP_054200972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,582 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054344998   ⟹   XP_054200973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03189,708 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054344999   ⟹   XP_054200974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,931 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054345000   ⟹   XP_054200975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,582 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054345001   ⟹   XP_054200976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03189,708 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054345002   ⟹   XP_054200977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,931 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054345003   ⟹   XP_054200978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,932 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054345004   ⟹   XP_054200979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,582 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054345005   ⟹   XP_054200980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,582 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054345006   ⟹   XP_054200981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03283,305 - 401,277 (+)NCBI
RefSeq Acc Id: XM_054345007   ⟹   XP_054200982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03188,932 - 401,277 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001240316 (Get FASTA)   NCBI Sequence Viewer  
  NP_001240317 (Get FASTA)   NCBI Sequence Viewer  
  NP_006605 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713001 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713002 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713003 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531594 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531596 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531597 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531598 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861055 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861056 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861058 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861059 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861060 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861061 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861062 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303291 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200966 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200967 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200968 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200969 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200970 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200971 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200972 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200973 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200974 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200975 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200976 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200977 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200978 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200979 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200980 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200981 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200982 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB60937 (Get FASTA)   NCBI Sequence Viewer  
  AAI04919 (Get FASTA)   NCBI Sequence Viewer  
  AAI43497 (Get FASTA)   NCBI Sequence Viewer  
  BAD92566 (Get FASTA)   NCBI Sequence Viewer  
  BAG54387 (Get FASTA)   NCBI Sequence Viewer  
  EAW63868 (Get FASTA)   NCBI Sequence Viewer  
  EAW63869 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000256509
  ENSP00000256509.2
  ENSP00000380628
  ENSP00000380628.2
  ENSP00000390440.2
  ENSP00000395239.2
  ENSP00000397445.1
  ENSP00000403311.1
  ENSP00000413109.1
  ENSP00000413628.1
  ENSP00000483512
  ENSP00000483512.1
GenBank Protein O00533 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006605   ⟸   NM_006614
- Peptide Label: isoform 1 precursor
- UniProtKB: B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001240316   ⟸   NM_001253387
- Peptide Label: isoform 2 precursor
- UniProtKB: Q2M3G2 (UniProtKB/Swiss-Prot),   B7ZL03 (UniProtKB/Swiss-Prot),   Q59FY0 (UniProtKB/Swiss-Prot),   O00533 (UniProtKB/Swiss-Prot),   B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001240317   ⟸   NM_001253388
- Peptide Label: isoform 3 precursor
- UniProtKB: A0A087X0M8 (UniProtKB/TrEMBL),   B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713002   ⟸   XM_006712939
- Peptide Label: isoform X1
- UniProtKB: B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713001   ⟸   XM_006712938
- Peptide Label: isoform X1
- UniProtKB: B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713003   ⟸   XM_006712940
- Peptide Label: isoform X1
- UniProtKB: B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531598   ⟸   XM_011533296
- Peptide Label: isoform X3
- UniProtKB: A0A087X0M8 (UniProtKB/TrEMBL),   B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531596   ⟸   XM_011533294
- Peptide Label: isoform X2
- UniProtKB: Q2M3G2 (UniProtKB/Swiss-Prot),   B7ZL03 (UniProtKB/Swiss-Prot),   Q59FY0 (UniProtKB/Swiss-Prot),   O00533 (UniProtKB/Swiss-Prot),   B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531594   ⟸   XM_011533292
- Peptide Label: isoform X1
- UniProtKB: B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531597   ⟸   XM_011533295
- Peptide Label: isoform X2
- UniProtKB: Q2M3G2 (UniProtKB/Swiss-Prot),   B7ZL03 (UniProtKB/Swiss-Prot),   Q59FY0 (UniProtKB/Swiss-Prot),   O00533 (UniProtKB/Swiss-Prot),   B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861055   ⟸   XM_017005566
- Peptide Label: isoform X1
- UniProtKB: B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861061   ⟸   XM_017005572
- Peptide Label: isoform X3
- UniProtKB: A0A087X0M8 (UniProtKB/TrEMBL),   B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861062   ⟸   XM_017005573
- Peptide Label: isoform X3
- UniProtKB: A0A087X0M8 (UniProtKB/TrEMBL),   B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861058   ⟸   XM_017005569
- Peptide Label: isoform X2
- UniProtKB: Q2M3G2 (UniProtKB/Swiss-Prot),   B7ZL03 (UniProtKB/Swiss-Prot),   Q59FY0 (UniProtKB/Swiss-Prot),   O00533 (UniProtKB/Swiss-Prot),   B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861056   ⟸   XM_017005567
- Peptide Label: isoform X1
- UniProtKB: B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861060   ⟸   XM_017005571
- Peptide Label: isoform X2
- UniProtKB: Q2M3G2 (UniProtKB/Swiss-Prot),   B7ZL03 (UniProtKB/Swiss-Prot),   Q59FY0 (UniProtKB/Swiss-Prot),   O00533 (UniProtKB/Swiss-Prot),   B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861059   ⟸   XM_017005570
- Peptide Label: isoform X2
- UniProtKB: Q2M3G2 (UniProtKB/Swiss-Prot),   B7ZL03 (UniProtKB/Swiss-Prot),   Q59FY0 (UniProtKB/Swiss-Prot),   O00533 (UniProtKB/Swiss-Prot),   B3KX75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000483512   ⟸   ENST00000620033
RefSeq Acc Id: ENSP00000403311   ⟸   ENST00000427688
RefSeq Acc Id: ENSP00000256509   ⟸   ENST00000256509
RefSeq Acc Id: ENSP00000413109   ⟸   ENST00000453040
RefSeq Acc Id: ENSP00000395239   ⟸   ENST00000445697
RefSeq Acc Id: ENSP00000390440   ⟸   ENST00000449294
RefSeq Acc Id: ENSP00000397445   ⟸   ENST00000435603
RefSeq Acc Id: ENSP00000413628   ⟸   ENST00000421198
RefSeq Acc Id: ENSP00000380628   ⟸   ENST00000397491
RefSeq Acc Id: XP_047303291   ⟸   XM_047447335
- Peptide Label: isoform X3
- UniProtKB: A0A087X0M8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054200972   ⟸   XM_054344997
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200979   ⟸   XM_054345004
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200968   ⟸   XM_054344993
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200980   ⟸   XM_054345005
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200975   ⟸   XM_054345000
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200966   ⟸   XM_054344991
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200974   ⟸   XM_054344999
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200969   ⟸   XM_054344994
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200977   ⟸   XM_054345002
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200978   ⟸   XM_054345003
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200982   ⟸   XM_054345007
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200967   ⟸   XM_054344992
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200973   ⟸   XM_054344998
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200970   ⟸   XM_054344995
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200976   ⟸   XM_054345001
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200971   ⟸   XM_054344996
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200981   ⟸   XM_054345006
- Peptide Label: isoform X3
Protein Domains
Fibronectin type-III   Ig-like   Ig-like C2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00533-F1-model_v2 AlphaFold O00533 1-1208 view protein structure

Promoters
RGD ID:6863396
Promoter ID:EPDNEW_H4863
Type:initiation region
Name:CHL1_3
Description:cell adhesion molecule L1 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4864  EPDNEW_H4865  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,596 - 196,656EPDNEW
RGD ID:6863398
Promoter ID:EPDNEW_H4864
Type:initiation region
Name:CHL1_1
Description:cell adhesion molecule L1 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4863  EPDNEW_H4865  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,763 - 196,823EPDNEW
RGD ID:6863400
Promoter ID:EPDNEW_H4865
Type:single initiation site
Name:CHL1_2
Description:cell adhesion molecule L1 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4863  EPDNEW_H4864  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383203,836 - 203,896EPDNEW
RGD ID:6800767
Promoter ID:HG_KWN:43429
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000207155,   OTTHUMT00000337365,   OTTHUMT00000337366,   OTTHUMT00000337367,   OTTHUMT00000337429,   OTTHUMT00000337430,   OTTHUMT00000337431,   OTTHUMT00000337432,   OTTHUMT00000337433
Position:
Human AssemblyChrPosition (strand)Source
Build 363213,466 - 214,592 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1939 AgrOrtholog
COSMIC CHL1 COSMIC
Ensembl Genes ENSG00000134121 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000256509 ENTREZGENE
  ENST00000256509.7 UniProtKB/Swiss-Prot
  ENST00000397491 ENTREZGENE
  ENST00000397491.6 UniProtKB/Swiss-Prot
  ENST00000421198.5 UniProtKB/TrEMBL
  ENST00000427688.5 UniProtKB/TrEMBL
  ENST00000435603.5 UniProtKB/TrEMBL
  ENST00000445697.1 UniProtKB/TrEMBL
  ENST00000449294.6 UniProtKB/TrEMBL
  ENST00000453040.5 UniProtKB/TrEMBL
  ENST00000489224 ENTREZGENE
  ENST00000620033 ENTREZGENE
  ENST00000620033.4 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134121 GTEx
HGNC ID HGNC:1939 ENTREZGENE
Human Proteome Map CHL1 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Immunoglobulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurofascin/L1/NrCAM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10752 UniProtKB/Swiss-Prot
NCBI Gene 10752 ENTREZGENE
OMIM 607416 OMIM
PANTHER NEURAL CELL ADHESION MOLECULE L1-LIKE PROTEIN ISOFORM X1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN SIDEKICK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Bravo_FIGEY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00047 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26470 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X0M8 ENTREZGENE, UniProtKB/TrEMBL
  B3KX75 ENTREZGENE, UniProtKB/TrEMBL
  B7ZL03 ENTREZGENE
  C9J905_HUMAN UniProtKB/TrEMBL
  C9JEY3_HUMAN UniProtKB/TrEMBL
  C9JH37_HUMAN UniProtKB/TrEMBL
  C9JW79_HUMAN UniProtKB/TrEMBL
  F8WEP4_HUMAN UniProtKB/TrEMBL
  H7C0J0_HUMAN UniProtKB/TrEMBL
  NCHL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2M3G2 ENTREZGENE
  Q59FY0 ENTREZGENE
UniProt Secondary B7ZL03 UniProtKB/Swiss-Prot
  Q2M3G2 UniProtKB/Swiss-Prot
  Q59FY0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 CHL1  cell adhesion molecule L1 like    cell adhesion molecule L1-like  Symbol and/or name change 5135510 APPROVED
2013-07-30 CHL1  cell adhesion molecule L1-like    cell adhesion molecule with homology to L1CAM (close homolog of L1)  Symbol and/or name change 5135510 APPROVED