RLIG1 (RNA 5'-phosphate and 3'-OH ligase 1) - Rat Genome Database

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Gene: RLIG1 (RNA 5'-phosphate and 3'-OH ligase 1) Homo sapiens
Analyze
Symbol: RLIG1
Name: RNA 5'-phosphate and 3'-OH ligase 1
RGD ID: 1606480
HGNC Page HGNC:25322
Description: Enables RNA ligase (ATP) activity. Involved in response to reactive oxygen species.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C12orf29; chromosome 12 open reading frame 29; DKFZp313K0436; DKFZp434N2030; DKFZp686L04169; FLJ38158; hypothetical protein LOC91298; MGC102978; RNA ligase; RNA ligase 1; Rnl; uncharacterized protein C12orf29
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RLIG1P1   RLIG1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381288,035,536 - 88,050,160 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1288,033,846 - 88,050,160 (+)EnsemblGRCh38hg38GRCh38
GRCh371288,429,313 - 88,443,937 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361286,953,399 - 86,968,068 (+)NCBINCBI36Build 36hg18NCBI36
Celera1288,097,282 - 88,111,951 (+)NCBICelera
Cytogenetic Map12q21.32NCBI
HuRef1285,496,156 - 85,510,825 (+)NCBIHuRef
CHM1_11288,394,295 - 88,408,964 (+)NCBICHM1_1
T2T-CHM13v2.01288,017,414 - 88,032,038 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:12477932   PMID:14702039   PMID:15489336   PMID:16381901   PMID:25187353   PMID:29676528   PMID:30021884   PMID:31091453   PMID:33001583   PMID:35256949  
PMID:35652658   PMID:35831314   PMID:36792600   PMID:37827155  


Genomics

Comparative Map Data
RLIG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381288,035,536 - 88,050,160 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1288,033,846 - 88,050,160 (+)EnsemblGRCh38hg38GRCh38
GRCh371288,429,313 - 88,443,937 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361286,953,399 - 86,968,068 (+)NCBINCBI36Build 36hg18NCBI36
Celera1288,097,282 - 88,111,951 (+)NCBICelera
Cytogenetic Map12q21.32NCBI
HuRef1285,496,156 - 85,510,825 (+)NCBIHuRef
CHM1_11288,394,295 - 88,408,964 (+)NCBICHM1_1
T2T-CHM13v2.01288,017,414 - 88,032,038 (+)NCBIT2T-CHM13v2.0
Rlig1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910100,408,136 - 100,425,252 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10100,408,127 - 100,426,285 (-)EnsemblGRCm39 Ensembl
GRCm3810100,572,274 - 100,589,390 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10100,572,265 - 100,590,423 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710100,034,908 - 100,051,893 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610100,001,962 - 100,018,903 (-)NCBIMGSCv36mm8
Celera10102,504,181 - 102,521,206 (-)NCBICelera
Cytogenetic Map10D1NCBI
cM Map1051.5NCBI
Rlig1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8737,284,545 - 37,295,858 (-)NCBIGRCr8
mRatBN7.2735,396,876 - 35,408,633 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl735,397,995 - 35,409,600 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx737,385,243 - 37,395,695 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0739,557,109 - 39,567,564 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0739,290,313 - 39,300,766 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0740,304,964 - 40,315,408 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl740,304,988 - 40,316,532 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0740,343,593 - 40,360,778 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4738,227,353 - 38,237,797 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1738,247,645 - 38,258,037 (-)NCBI
Celera732,390,277 - 32,400,721 (-)NCBICelera
Cytogenetic Map7q21NCBI
Rlig1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540525,514,650 - 25,533,520 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540525,514,644 - 25,533,520 (+)NCBIChiLan1.0ChiLan1.0
RLIG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21096,074,077 - 96,090,137 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11296,070,475 - 96,084,821 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01285,576,750 - 85,591,510 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11288,882,543 - 88,897,291 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1288,878,836 - 88,897,291 (+)Ensemblpanpan1.1panPan2
RLIG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11529,182,975 - 29,241,884 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1529,182,987 - 29,241,861 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1529,633,930 - 29,692,791 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01529,820,174 - 29,879,287 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1529,820,178 - 29,895,948 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11529,139,118 - 29,197,839 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01529,198,459 - 29,257,182 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01529,481,454 - 29,540,581 (+)NCBIUU_Cfam_GSD_1.0
Rlig1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494531,010,530 - 31,024,913 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365075,210,504 - 5,223,728 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365075,210,561 - 5,223,320 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RLIG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl594,473,174 - 94,489,661 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1594,473,172 - 94,489,643 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2599,161,667 - 99,176,416 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RLIG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11183,407,413 - 83,422,055 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1183,407,474 - 83,422,277 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037161,848,892 - 161,863,512 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rlig1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248377,041,984 - 7,054,160 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248377,041,942 - 7,054,488 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RLIG1
63 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001009894.2(C12orf29):c.345G>A (p.Pro115=) single nucleotide variant Malignant melanoma [RCV000070244] Chr12:88043639 [GRCh38]
Chr12:88437416 [GRCh37]
Chr12:86961547 [NCBI36]
Chr12:12q21.32		 not provided
NM_001009894.3(RLIG1):c.*1014A>G single nucleotide variant not provided [RCV001582577]|not specified [RCV000114208] Chr12:88049436 [GRCh38]
Chr12:88443213 [GRCh37]
Chr12:12q21.32		 benign|likely benign
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) duplication Bardet-Biedl syndrome 14 [RCV003467018]|Familial aplasia of the vermis [RCV001220513]|Leber congenital amaurosis 10 [RCV002498467]|Leber congenital amaurosis [RCV001831898]|not provided [RCV000086302] Chr12:88049282..88049283 [GRCh38]
Chr12:88443059..88443060 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic|uncertain significance|not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 copy number loss See cases [RCV000143099] Chr12:73485697..92795805 [GRCh38]
Chr12:73879477..93189581 [GRCh37]
Chr12:72165744..91713712 [NCBI36]
Chr12:12q21.1-22		 pathogenic
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) single nucleotide variant Familial aplasia of the vermis [RCV000804418]|not provided [RCV000179154] Chr12:88049208 [GRCh38]
Chr12:88442985 [GRCh37]
Chr12:12q21.32		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_001009894.3(RLIG1):c.*743_*746del deletion Bardet-Biedl syndrome [RCV000260946]|Familial aplasia of the vermis [RCV000353438]|Leber congenital amaurosis [RCV000385919]|Meckel-Gruber syndrome [RCV000332442]|Renal dysplasia and retinal aplasia [RCV000300901]|not provided [RCV001640573]|not specified [RCV000243768] Chr12:88049162..88049165 [GRCh38]
Chr12:88442939..88442942 [GRCh37]
Chr12:12q21.32		 benign|likely benign
NM_001009894.3(RLIG1):c.*718A>T single nucleotide variant not specified [RCV000249173] Chr12:88049140 [GRCh38]
Chr12:88442917 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser) single nucleotide variant Bardet-Biedl syndrome 14 [RCV000287868]|Familial aplasia of the vermis [RCV002522255]|Joubert syndrome 5 [RCV000327940]|Leber congenital amaurosis 10 [RCV000326424]|Meckel syndrome, type 4 [RCV000384840]|Senior-Loken syndrome 6 [RCV000275155] Chr12:88049249 [GRCh38]
Chr12:88443026 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7365A>G (p.Glu2455=) single nucleotide variant Bardet-Biedl syndrome 14 [RCV000280658]|CEP290-related condition [RCV003897714]|Familial aplasia of the vermis [RCV001410302]|Joubert syndrome 5 [RCV000378693]|Leber congenital amaurosis 10 [RCV000286608]|Meckel syndrome, type 4 [RCV000401265]|Senior-Loken syndrome 6 [RCV000339178] Chr12:88049259 [GRCh38]
Chr12:88443036 [GRCh37]
Chr12:12q21.32		 likely benign|uncertain significance
NM_001009894.3(RLIG1):c.*618TATT[1] microsatellite Bardet-Biedl syndrome [RCV000391265]|Familial aplasia of the vermis [RCV000341354]|Leber congenital amaurosis [RCV000301918]|Meckel-Gruber syndrome [RCV000359008]|Renal dysplasia and retinal aplasia [RCV000261908] Chr12:88049038..88049041 [GRCh38]
Chr12:88442815..88442818 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del) microsatellite Familial aplasia of the vermis [RCV001855180]|Leber congenital amaurosis 10 [RCV002502140]|not provided [RCV000287879] Chr12:88049311..88049313 [GRCh38]
Chr12:88443088..88443090 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn) single nucleotide variant Bardet-Biedl syndrome 14 [RCV000407058]|CEP290-related condition [RCV003417987]|Familial aplasia of the vermis [RCV000544687]|Inborn genetic diseases [RCV002520838]|Joubert syndrome 5 [RCV000338001]|Leber congenital amaurosis 10 [RCV000407054]|Leber congenital amaurosis [RCV001835778]|Meckel syndrome, type 4 [RCV000298062]|Senior-Loken syndrome 6 [RCV000369181]|not provided [RCV001753771] Chr12:88049348 [GRCh38]
Chr12:88443125 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) microsatellite Bardet-Biedl syndrome 14 [RCV000714705]|Familial aplasia of the vermis [RCV001085471]|Joubert syndrome 5 [RCV000714704]|not provided [RCV000862260]|not specified [RCV000413111] Chr12:88049229..88049230 [GRCh38]
Chr12:88443006..88443007 [GRCh37]
Chr12:12q21.32		 likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025114.4(CEP290):c.7219A>C (p.Lys2407Gln) single nucleotide variant not specified [RCV000437929] Chr12:88049405 [GRCh38]
Chr12:88443182 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) deletion Bardet-Biedl syndrome 14 [RCV003470523]|CEP290-related condition [RCV003960123]|Familial aplasia of the vermis [RCV001238421]|Global developmental delay [RCV001270057]|Meckel syndrome, type 4 [RCV003987554]|not provided [RCV000485275] Chr12:88049401..88049404 [GRCh38]
Chr12:88443178..88443181 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn) single nucleotide variant Familial aplasia of the vermis [RCV000636989]|Leber congenital amaurosis [RCV001835024] Chr12:88049313 [GRCh38]
Chr12:88443090 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr) single nucleotide variant Familial aplasia of the vermis [RCV001857318]|Inborn genetic diseases [RCV003159652]|not provided [RCV000513597] Chr12:88049227 [GRCh38]
Chr12:88443004 [GRCh37]
Chr12:12q21.32		 uncertain significance
GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1 copy number loss not provided [RCV000683472] Chr12:87654236..91893923 [GRCh37]
Chr12:12q21.32-21.33		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33		 pathogenic
GRCh37/hg19 12q21.32(chr12:88387608-88993471)x3 copy number gain not provided [RCV000737985] Chr12:88387608..88993471 [GRCh37]
Chr12:12q21.32		 benign
NM_025114.4(CEP290):c.7213G>A (p.Glu2405Lys) single nucleotide variant Familial aplasia of the vermis [RCV002573239]|not provided [RCV001577094] Chr12:88049411 [GRCh38]
Chr12:88443188 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) single nucleotide variant CEP290-related condition [RCV003396735]|Familial aplasia of the vermis [RCV001242969]|Inborn genetic diseases [RCV003353155]|Intellectual disability [RCV001252440]|Leber congenital amaurosis [RCV001828540]|Retinal dystrophy [RCV001075283]|not provided [RCV002290589] Chr12:88049284 [GRCh38]
Chr12:88443061 [GRCh37]
Chr12:12q21.32		 likely benign|uncertain significance
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) microsatellite Bardet-Biedl syndrome 14 [RCV003467818]|CEP290-Related Disorders [RCV002307671]|Familial aplasia of the vermis [RCV001062455]|Leber congenital amaurosis 10 [RCV002505632]|Leber congenital amaurosis [RCV001827398] Chr12:88049292..88049296 [GRCh38]
Chr12:88443069..88443073 [GRCh37]
Chr12:12q21.32		 pathogenic
GRCh37/hg19 12q21.32-21.33(chr12:87296336-90301051)x1 copy number loss not provided [RCV000856657] Chr12:87296336..90301051 [GRCh37]
Chr12:12q21.32-21.33		 likely pathogenic|uncertain significance
GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577) copy number gain not provided [RCV000767570] Chr12:82183041..88755577 [GRCh37]
Chr12:12q21.31-21.32		 pathogenic
NM_025114.4(CEP290):c.7329G>A (p.Glu2443=) single nucleotide variant Familial aplasia of the vermis [RCV001395881] Chr12:88049295 [GRCh38]
Chr12:88443072 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7212G>A (p.Glu2404=) single nucleotide variant Familial aplasia of the vermis [RCV001464530] Chr12:88049412 [GRCh38]
Chr12:88443189 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.3(CEP290):c.4438-318_7243del deletion Familial aplasia of the vermis [RCV000802464] Chr12:88049381..88085170 [GRCh38]
Chr12:12q21.32		 pathogenic|likely pathogenic
GRCh37/hg19 12q21.32(chr12:88441796-88714104)x3 copy number gain not provided [RCV001006522] Chr12:88441796..88714104 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_001009894.3(RLIG1):c.*594T>C single nucleotide variant Bardet-Biedl syndrome 14 [RCV001113882]|Joubert syndrome 5 [RCV001113884]|Leber congenital amaurosis 10 [RCV001113883]|Meckel syndrome, type 4 [RCV001113881]|Senior-Loken syndrome 6 [RCV001113885] Chr12:88049016 [GRCh38]
Chr12:88442793 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) microsatellite Bardet-Biedl syndrome 14 [RCV003461271]|Familial aplasia of the vermis [RCV000821112]|Leber congenital amaurosis 10 [RCV002487837]|Leber congenital amaurosis [RCV001830808] Chr12:88049291..88049292 [GRCh38]
Chr12:88443068..88443069 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
NM_001009894.3(RLIG1):c.*611A>G single nucleotide variant Bardet-Biedl syndrome 14 [RCV001109861]|Joubert syndrome 5 [RCV001109859]|Leber congenital amaurosis 10 [RCV001113887]|Meckel syndrome, type 4 [RCV001109860]|Senior-Loken syndrome 6 [RCV001113886] Chr12:88049033 [GRCh38]
Chr12:88442810 [GRCh37]
Chr12:12q21.32		 uncertain significance
GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1 copy number loss not provided [RCV000848027] Chr12:77737623..94330526 [GRCh37]
Chr12:12q21.2-22		 pathogenic
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs) insertion CEP290-related condition [RCV003414046]|Familial aplasia of the vermis [RCV001241131]|Leber congenital amaurosis [RCV001828967]|not provided [RCV001586081] Chr12:88049231..88049232 [GRCh38]
Chr12:88443008..88443009 [GRCh37]
Chr12:12q21.32		 pathogenic|uncertain significance
NM_025114.4(CEP290):c.7370C>T (p.Thr2457Ile) single nucleotide variant Familial aplasia of the vermis [RCV001213152] Chr12:88049254 [GRCh38]
Chr12:88443031 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) duplication Bardet-Biedl syndrome 14 [RCV003469403]|CEP290-related condition [RCV003945931]|Familial aplasia of the vermis [RCV001229340]|Joubert syndrome 5 [RCV001580574]|Leber congenital amaurosis 10 [RCV002504305] Chr12:88049337..88049338 [GRCh38]
Chr12:88443114..88443115 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
NM_001009894.3(RLIG1):c.*1295A>C single nucleotide variant not provided [RCV001569266] Chr12:88049717 [GRCh38]
Chr12:88443494 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=) single nucleotide variant Familial aplasia of the vermis [RCV000922005] Chr12:88049331 [GRCh38]
Chr12:88443108 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly) single nucleotide variant CEP290-related condition [RCV003405444]|Familial aplasia of the vermis [RCV001243387]|Leber congenital amaurosis [RCV001829029]|not provided [RCV003145474] Chr12:88049252 [GRCh38]
Chr12:88443029 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs) duplication Familial aplasia of the vermis [RCV001231786]|Rod-cone dystrophy [RCV001030765] Chr12:88049279..88049280 [GRCh38]
Chr12:88443056..88443057 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del) microsatellite Familial aplasia of the vermis [RCV001234742]|Leber congenital amaurosis [RCV001828866] Chr12:88049211..88049213 [GRCh38]
Chr12:88442988..88442990 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7318_7321dup (p.Leu2441fs) microsatellite Retinal dystrophy [RCV001074503] Chr12:88049302..88049303 [GRCh38]
Chr12:88443079..88443080 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser) single nucleotide variant Familial aplasia of the vermis [RCV001217953]|Leber congenital amaurosis [RCV001833893] Chr12:88049227 [GRCh38]
Chr12:88443004 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys) single nucleotide variant Familial aplasia of the vermis [RCV001040258]|Leber congenital amaurosis [RCV001832399] Chr12:88049384 [GRCh38]
Chr12:88443161 [GRCh37]
Chr12:12q21.32		 uncertain significance
GRCh37/hg19 12q21.32(chr12:87592859-88588159)x3 copy number gain not provided [RCV001006521] Chr12:87592859..88588159 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7257A>G (p.Ser2419=) single nucleotide variant Retinal dystrophy [RCV001074323] Chr12:88049367 [GRCh38]
Chr12:88443144 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) duplication Bardet-Biedl syndrome 14 [RCV003467770]|Familial aplasia of the vermis [RCV001052782]|Leber congenital amaurosis 10 [RCV002497410] Chr12:88049390..88049391 [GRCh38]
Chr12:88443167..88443168 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile) single nucleotide variant CEP290-related condition [RCV003928788]|Familial aplasia of the vermis [RCV001215706]|Intellectual disability [RCV001252437]|Leber congenital amaurosis [RCV001828717] Chr12:88049291 [GRCh38]
Chr12:88443068 [GRCh37]
Chr12:12q21.32		 likely benign|uncertain significance
NC_000012.12:g.(?_87983103)_(88507137_?)del deletion Familial aplasia of the vermis [RCV001033710] Chr12:88376880..88900914 [GRCh37]
Chr12:12q21.32		 pathogenic
NC_000012.11:g.(?_88442961)_(88449494_?)dup duplication Familial aplasia of the vermis [RCV001316685] Chr12:88442961..88449494 [GRCh37]
Chr12:12q21.32		 uncertain significance
NC_000012.11:g.(?_88442955)_(88449500_?)dup duplication Familial aplasia of the vermis [RCV001305616] Chr12:88442955..88449500 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del) microsatellite Familial aplasia of the vermis [RCV001365589]|Leber congenital amaurosis [RCV001826044] Chr12:88049238..88049240 [GRCh38]
Chr12:88443015..88443017 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) single nucleotide variant Familial aplasia of the vermis [RCV001384498]|Leber congenital amaurosis 10 [RCV002493927] Chr12:88049300 [GRCh38]
Chr12:88443077 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
NM_025114.4(CEP290):c.7275A>G (p.Glu2425=) single nucleotide variant Familial aplasia of the vermis [RCV001474037] Chr12:88049349 [GRCh38]
Chr12:88443126 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) duplication Bardet-Biedl syndrome 14 [RCV003463031]|CEP290-Related Disorders [RCV003479322]|Familial aplasia of the vermis [RCV001389629] Chr12:88049340..88049341 [GRCh38]
Chr12:88443117..88443118 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
NM_025114.4(CEP290):c.7239G>C (p.Leu2413=) single nucleotide variant Familial aplasia of the vermis [RCV001392986] Chr12:88049385 [GRCh38]
Chr12:88443162 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7289_7292dup (p.Tyr2431Ter) duplication Familial aplasia of the vermis [RCV001390143] Chr12:88049331..88049332 [GRCh38]
Chr12:88443108..88443109 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_025114.4(CEP290):c.7354T>C (p.Leu2452=) single nucleotide variant Familial aplasia of the vermis [RCV001495840] Chr12:88049270 [GRCh38]
Chr12:88443047 [GRCh37]
Chr12:12q21.32		 likely benign
NM_001009894.3(RLIG1):c.*997T>A single nucleotide variant CEP290-related condition [RCV003908779]|Familial aplasia of the vermis [RCV001497489] Chr12:88049419 [GRCh38]
Chr12:88443196 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) deletion Bardet-Biedl syndrome 14 [RCV003469771]|Familial aplasia of the vermis [RCV001390390]|Leber congenital amaurosis 10 [RCV002488212]|not provided [RCV003136065] Chr12:88049283 [GRCh38]
Chr12:88443060 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
NM_025114.4(CEP290):c.7287T>A (p.Tyr2429Ter) single nucleotide variant Bardet-Biedl syndrome 14 [RCV003469701]|Familial aplasia of the vermis [RCV001383766] Chr12:88049337 [GRCh38]
Chr12:88443114 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
NM_025114.4(CEP290):c.7251T>C (p.Asp2417=) single nucleotide variant Familial aplasia of the vermis [RCV001437495] Chr12:88049373 [GRCh38]
Chr12:88443150 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys) single nucleotide variant Familial aplasia of the vermis [RCV003107203]|Retinal dystrophy [RCV003889277] Chr12:88049213 [GRCh38]
Chr12:88442990 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs) deletion CEP290-related condition [RCV003948707]|Familial aplasia of the vermis [RCV002538829]|not provided [RCV001772798] Chr12:88049212..88049213 [GRCh38]
Chr12:88442989..88442990 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7256C>T (p.Ser2419Leu) single nucleotide variant Familial aplasia of the vermis [RCV001991656] Chr12:88049368 [GRCh38]
Chr12:88443145 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7303G>A (p.Val2435Met) single nucleotide variant Familial aplasia of the vermis [RCV001867412] Chr12:88049321 [GRCh38]
Chr12:88443098 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7234del (p.Glu2412fs) deletion not provided [RCV001780760] Chr12:88049390 [GRCh38]
Chr12:88443167 [GRCh37]
Chr12:12q21.32		 likely pathogenic
NM_025114.4(CEP290):c.7288_7289dup (p.Asn2430fs) duplication Bardet-Biedl syndrome 14 [RCV003471127]|Familial aplasia of the vermis [RCV002037623] Chr12:88049334..88049335 [GRCh38]
Chr12:88443111..88443112 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
GRCh37/hg19 12q21.32(chr12:87592859-88575639) copy number gain not specified [RCV002053006] Chr12:87592859..88575639 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7264G>T (p.Glu2422Ter) single nucleotide variant Familial aplasia of the vermis [RCV001997322] Chr12:88049360 [GRCh38]
Chr12:88443137 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_025114.4(CEP290):c.7237C>A (p.Leu2413Met) single nucleotide variant Familial aplasia of the vermis [RCV001897880] Chr12:88049387 [GRCh38]
Chr12:88443164 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7341A>G (p.Lys2447=) single nucleotide variant Familial aplasia of the vermis [RCV001960544] Chr12:88049283 [GRCh38]
Chr12:88443060 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) duplication Familial aplasia of the vermis [RCV001884185]|Leber congenital amaurosis 10 [RCV002503494] Chr12:88049360..88049361 [GRCh38]
Chr12:88443137..88443138 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
NC_000012.11:g.(?_88442951)_(88535094_?)del deletion Joubert syndrome [RCV001949504] Chr12:88442951..88535094 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_025114.4(CEP290):c.7430C>G (p.Pro2477Arg) single nucleotide variant Familial aplasia of the vermis [RCV001897005] Chr12:88049194 [GRCh38]
Chr12:88442971 [GRCh37]
Chr12:12q21.32		 uncertain significance
NC_000012.11:g.(?_88442961)_(89919672_?)dup duplication not provided [RCV002048337] Chr12:88442961..89919672 [GRCh37]
Chr12:12q21.32-21.33		 uncertain significance
NM_001009894.3(RLIG1):c.*1008T>C single nucleotide variant Familial aplasia of the vermis [RCV001931422] Chr12:88049430 [GRCh38]
Chr12:88443207 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7233del (p.Glu2412fs) deletion Bardet-Biedl syndrome 14 [RCV003471056]|Familial aplasia of the vermis [RCV001954522] Chr12:88049391 [GRCh38]
Chr12:88443168 [GRCh37]
Chr12:12q21.32		 pathogenic|likely pathogenic
NC_000012.11:g.(?_88442961)_(88452817_?)del deletion Familial aplasia of the vermis [RCV001953462] Chr12:88442961..88452817 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_025114.4(CEP290):c.7437C>T (p.Tyr2479=) single nucleotide variant Familial aplasia of the vermis [RCV002189081] Chr12:88049187 [GRCh38]
Chr12:88442964 [GRCh37]
Chr12:12q21.32		 likely benign
NM_001009894.3(RLIG1):c.*1008_*1013del deletion Familial aplasia of the vermis [RCV002076344] Chr12:88049427..88049432 [GRCh38]
Chr12:88443204..88443209 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7314T>C (p.Asn2438=) single nucleotide variant Familial aplasia of the vermis [RCV002167605] Chr12:88049310 [GRCh38]
Chr12:88443087 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7425T>C (p.Asn2475=) single nucleotide variant Familial aplasia of the vermis [RCV002166128] Chr12:88049199 [GRCh38]
Chr12:88442976 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7308G>A (p.Lys2436=) single nucleotide variant Familial aplasia of the vermis [RCV002084300] Chr12:88049316 [GRCh38]
Chr12:88443093 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) duplication Familial aplasia of the vermis [RCV003101543]|Joubert syndrome 5 [RCV002272835] Chr12:88049337..88049338 [GRCh38]
Chr12:88443114..88443115 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_025114.4(CEP290):c.7284G>A (p.Lys2428=) single nucleotide variant Familial aplasia of the vermis [RCV002819298] Chr12:88049340 [GRCh38]
Chr12:88443117 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7282_7284dup (p.Lys2428_Tyr2429insLys) duplication Familial aplasia of the vermis [RCV002756215] Chr12:88049339..88049340 [GRCh38]
Chr12:88443116..88443117 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7394_7397dup (p.Phe2466fs) duplication Familial aplasia of the vermis [RCV002858113] Chr12:88049226..88049227 [GRCh38]
Chr12:88443003..88443004 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7358_7359delinsAG (p.Gly2453Glu) indel Familial aplasia of the vermis [RCV002971396] Chr12:88049265..88049266 [GRCh38]
Chr12:88443042..88443043 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7335A>C (p.Val2445=) single nucleotide variant Familial aplasia of the vermis [RCV003073776] Chr12:88049289 [GRCh38]
Chr12:88443066 [GRCh37]
Chr12:12q21.32		 likely benign
NM_001009894.3(RLIG1):c.*995A>C single nucleotide variant Familial aplasia of the vermis [RCV003036878] Chr12:88049417 [GRCh38]
Chr12:88443194 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7331del (p.Lys2444fs) deletion Familial aplasia of the vermis [RCV002912902] Chr12:88049293 [GRCh38]
Chr12:88443070 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_025114.4(CEP290):c.7416T>C (p.Ser2472=) single nucleotide variant Familial aplasia of the vermis [RCV002853031] Chr12:88049208 [GRCh38]
Chr12:88442985 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7386T>G (p.Ala2462=) single nucleotide variant Familial aplasia of the vermis [RCV002852011] Chr12:88049238 [GRCh38]
Chr12:88443015 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7316T>C (p.Ile2439Thr) single nucleotide variant Familial aplasia of the vermis [RCV002721194] Chr12:88049308 [GRCh38]
Chr12:88443085 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln) single nucleotide variant CEP290-related condition [RCV003420351]|Familial aplasia of the vermis [RCV002579352]|Retinal dystrophy [RCV003889243] Chr12:88049402 [GRCh38]
Chr12:88443179 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7305G>C (p.Val2435=) single nucleotide variant Familial aplasia of the vermis [RCV002671038] Chr12:88049319 [GRCh38]
Chr12:88443096 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7243A>G (p.Asn2415Asp) single nucleotide variant Familial aplasia of the vermis [RCV003068678] Chr12:88049381 [GRCh38]
Chr12:88443158 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7305GAA[4] (p.Lys2437_Asn2438insLys) microsatellite Familial aplasia of the vermis [RCV003052435] Chr12:88049310..88049311 [GRCh38]
Chr12:88443087..88443088 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7256_7259del (p.Ser2419fs) deletion Bardet-Biedl syndrome 14 [RCV003466684] Chr12:88049365..88049368 [GRCh38]
Chr12:88443142..88443145 [GRCh37]
Chr12:12q21.32		 likely pathogenic
NM_025114.4(CEP290):c.7311del (p.Asn2438fs) deletion Bardet-Biedl syndrome 14 [RCV003466677] Chr12:88049313 [GRCh38]
Chr12:88443090 [GRCh37]
Chr12:12q21.32		 likely pathogenic
NM_025114.4(CEP290):c.7334dup (p.Leu2448fs) duplication Bardet-Biedl syndrome 14 [RCV003466712] Chr12:88049289..88049290 [GRCh38]
Chr12:88443066..88443067 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_025114.4(CEP290):c.7248del (p.Phe2416fs) deletion Bardet-Biedl syndrome 14 [RCV003466732] Chr12:88049376 [GRCh38]
Chr12:88443153 [GRCh37]
Chr12:12q21.32		 likely pathogenic
NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter) single nucleotide variant Bardet-Biedl syndrome 14 [RCV003466711] Chr12:88049368 [GRCh38]
Chr12:88443145 [GRCh37]
Chr12:12q21.32		 likely pathogenic
NM_025114.4(CEP290):c.7361T>C (p.Val2454Ala) single nucleotide variant CEP290-related condition [RCV003399742] Chr12:88049263 [GRCh38]
Chr12:88443040 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7348G>C (p.Glu2450Gln) single nucleotide variant CEP290-related condition [RCV003411976] Chr12:88049276 [GRCh38]
Chr12:88443053 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7327_7330delinsTATT (p.Glu2443_Lys2444delinsTyrTer) indel Bardet-Biedl syndrome 14 [RCV003466713] Chr12:88049294..88049297 [GRCh38]
Chr12:88443071..88443074 [GRCh37]
Chr12:12q21.32		 likely pathogenic
NM_025114.4(CEP290):c.7374C>T (p.Ser2458=) single nucleotide variant Familial aplasia of the vermis [RCV003783373] Chr12:88049250 [GRCh38]
Chr12:88443027 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7263del (p.Phe2421fs) deletion Familial aplasia of the vermis [RCV003804430] Chr12:88049361 [GRCh38]
Chr12:88443138 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_025114.4(CEP290):c.7233A>G (p.Lys2411=) single nucleotide variant Familial aplasia of the vermis [RCV003806457] Chr12:88049391 [GRCh38]
Chr12:88443168 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7257A>C (p.Ser2419=) single nucleotide variant Familial aplasia of the vermis [RCV003804431] Chr12:88049367 [GRCh38]
Chr12:88443144 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7422T>C (p.Val2474=) single nucleotide variant Familial aplasia of the vermis [RCV003798409] Chr12:88049202 [GRCh38]
Chr12:88442979 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7380T>A (p.Val2460=) single nucleotide variant Familial aplasia of the vermis [RCV003818076] Chr12:88049244 [GRCh38]
Chr12:88443021 [GRCh37]
Chr12:12q21.32		 likely benign
NM_001009894.3(RLIG1):c.*1006_*1008dup duplication Familial aplasia of the vermis [RCV003818103] Chr12:88049425..88049426 [GRCh38]
Chr12:88443202..88443203 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7393_7395dup (p.Glu2465_Phe2466insGlu) duplication Familial aplasia of the vermis [RCV003798314] Chr12:88049228..88049229 [GRCh38]
Chr12:88443005..88443006 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_025114.4(CEP290):c.7366T>C (p.Leu2456=) single nucleotide variant Familial aplasia of the vermis [RCV003800140] Chr12:88049258 [GRCh38]
Chr12:88443035 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7317T>A (p.Ile2439=) single nucleotide variant Familial aplasia of the vermis [RCV003802884] Chr12:88049307 [GRCh38]
Chr12:88443084 [GRCh37]
Chr12:12q21.32		 likely benign
NM_025114.4(CEP290):c.7347A>G (p.Ser2449=) single nucleotide variant Familial aplasia of the vermis [RCV003803939] Chr12:88049277 [GRCh38]
Chr12:88443054 [GRCh37]
Chr12:12q21.32		 likely benign
GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1 copy number loss not specified [RCV003986972] Chr12:74887087..90469800 [GRCh37]
Chr12:12q21.1-21.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2224
Count of miRNA genes:651
Interacting mature miRNAs:758
Transcripts:ENST00000356891, ENST00000453037, ENST00000547468, ENST00000548511, ENST00000548757, ENST00000549345, ENST00000550333, ENST00000552121, ENST00000552803, ENST00000552847
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
RH77993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371288,442,878 - 88,443,037UniSTSGRCh37
Build 361286,967,009 - 86,967,168RGDNCBI36
Celera1288,110,892 - 88,111,051RGD
Cytogenetic Map12q21.32UniSTS
HuRef1285,509,766 - 85,509,925UniSTS
GeneMap99-GB4 RH Map12344.9UniSTS
NCBI RH Map12593.5UniSTS
WI-22205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371288,443,738 - 88,443,837UniSTSGRCh37
Build 361286,967,869 - 86,967,968RGDNCBI36
Celera1288,111,752 - 88,111,851RGD
Cytogenetic Map12q21.32UniSTS
HuRef1285,510,626 - 85,510,725UniSTS
GeneMap99-GB4 RH Map12347.35UniSTS
Whitehead-RH Map12451.9UniSTS
RH15617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371288,443,738 - 88,443,877UniSTSGRCh37
GRCh37889,499,906 - 89,500,047UniSTSGRCh37
Build 36889,569,022 - 89,569,163RGDNCBI36
Celera885,694,193 - 85,694,334RGD
Celera1288,111,752 - 88,111,891UniSTS
Cytogenetic Map12q21.32UniSTS
HuRef1285,510,626 - 85,510,765UniSTS
HuRef884,709,397 - 84,709,538UniSTS
RH77897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371288,440,622 - 88,440,743UniSTSGRCh37
Build 361286,964,753 - 86,964,874RGDNCBI36
Celera1288,108,636 - 88,108,757RGD
Cytogenetic Map12q21.32UniSTS
HuRef1285,507,510 - 85,507,631UniSTS
GeneMap99-GB4 RH Map12357.5UniSTS


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 919 1238 738 101 404 28 2857 513 2785 123 1110 979 84 459 1908
Low 1519 1661 988 523 1458 437 1499 1681 949 296 350 634 91 1 745 880 6 2
Below cutoff 92 89 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000356891   ⟹   ENSP00000349358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,035,536 - 88,050,160 (+)Ensembl
RefSeq Acc Id: ENST00000453037   ⟹   ENSP00000402018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,035,562 - 88,046,949 (+)Ensembl
RefSeq Acc Id: ENST00000547468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,041,708 - 88,048,423 (+)Ensembl
RefSeq Acc Id: ENST00000548511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,035,752 - 88,048,457 (+)Ensembl
RefSeq Acc Id: ENST00000548757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,033,846 - 88,046,976 (+)Ensembl
RefSeq Acc Id: ENST00000549345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,034,132 - 88,045,602 (+)Ensembl
RefSeq Acc Id: ENST00000550333   ⟹   ENSP00000448194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,035,505 - 88,050,158 (+)Ensembl
RefSeq Acc Id: ENST00000552121   ⟹   ENSP00000447327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,035,536 - 88,049,225 (+)Ensembl
RefSeq Acc Id: ENST00000552803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,035,610 - 88,043,838 (+)Ensembl
RefSeq Acc Id: ENST00000552847   ⟹   ENSP00000448332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,035,538 - 88,045,787 (+)Ensembl
RefSeq Acc Id: NM_001009894   ⟹   NP_001009894
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381288,035,536 - 88,050,160 (+)NCBI
GRCh371288,429,268 - 88,443,937 (+)RGD
Build 361286,953,399 - 86,968,068 (+)NCBI Archive
Celera1288,097,282 - 88,111,951 (+)RGD
HuRef1285,496,156 - 85,510,825 (+)ENTREZGENE
CHM1_11288,394,295 - 88,408,964 (+)NCBI
T2T-CHM13v2.01288,017,414 - 88,032,038 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001009894   ⟸   NM_001009894
- UniProtKB: Q8IYQ5 (UniProtKB/Swiss-Prot),   Q6PEK5 (UniProtKB/Swiss-Prot),   Q6AWA8 (UniProtKB/Swiss-Prot),   Q569K5 (UniProtKB/Swiss-Prot),   Q9NT75 (UniProtKB/Swiss-Prot),   Q8N999 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000402018   ⟸   ENST00000453037
RefSeq Acc Id: ENSP00000448194   ⟸   ENST00000550333
RefSeq Acc Id: ENSP00000447327   ⟸   ENST00000552121
RefSeq Acc Id: ENSP00000349358   ⟸   ENST00000356891
RefSeq Acc Id: ENSP00000448332   ⟸   ENST00000552847

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N999-F1-model_v2 AlphaFold Q8N999 1-325 view protein structure

Promoters
RGD ID:6789869
Promoter ID:HG_KWN:16273
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001009894,   UC001TAP.1,   UC009ZSK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361286,953,271 - 86,953,771 (+)MPROMDB
RGD ID:7224959
Promoter ID:EPDNEW_H18224
Type:initiation region
Name:C12orf29_1
Description:chromosome 12 open reading frame 29
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381288,035,536 - 88,035,596EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25322 AgrOrtholog
COSMIC RLIG1 COSMIC
Ensembl Genes ENSG00000133641 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356891 ENTREZGENE
  ENST00000356891.4 UniProtKB/Swiss-Prot
  ENST00000453037.7 UniProtKB/Swiss-Prot
  ENST00000550333.5 UniProtKB/Swiss-Prot
  ENST00000552121.5 UniProtKB/Swiss-Prot
  ENST00000552847.5 UniProtKB/TrEMBL
GTEx ENSG00000133641 GTEx
HGNC ID HGNC:25322 ENTREZGENE
Human Proteome Map RLIG1 Human Proteome Map
InterPro DUF5565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91298 UniProtKB/Swiss-Prot
NCBI Gene 91298 ENTREZGENE
PANTHER CHROMOSOME 12 OPEN READING FRAME 29 UniProtKB/Swiss-Prot
  PTHR31219 UniProtKB/Swiss-Prot
Pfam DUF5565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485359 PharmGKB
UniProt CL029_HUMAN UniProtKB/Swiss-Prot
  G3V1X7_HUMAN UniProtKB/TrEMBL
  Q569K5 ENTREZGENE
  Q6AWA8 ENTREZGENE
  Q6PEK5 ENTREZGENE
  Q8IYQ5 ENTREZGENE
  Q8N999 ENTREZGENE
  Q9NT75 ENTREZGENE
UniProt Secondary Q569K5 UniProtKB/Swiss-Prot
  Q6AWA8 UniProtKB/Swiss-Prot
  Q6PEK5 UniProtKB/Swiss-Prot
  Q8IYQ5 UniProtKB/Swiss-Prot
  Q9NT75 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-04-03 RLIG1  RNA 5'-phosphate and 3'-OH ligase 1  C12orf29  chromosome 12 open reading frame 29  Symbol and/or name change 19259463 PROVISIONAL