RIC1 (RIC1 homolog, RAB6A GEF complex partner 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: RIC1 (RIC1 homolog, RAB6A GEF complex partner 1) Homo sapiens
Analyze
Symbol: RIC1
Name: RIC1 homolog, RAB6A GEF complex partner 1
RGD ID: 1320674
HGNC Page HGNC:17686
Description: Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in several processes, including positive regulation of GTPase activity; regulation of extracellular matrix constituent secretion; and retrograde transport, endosome to Golgi. Located in cytosol and membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: bA207C16.1; CATIFA; CIP150; connexin 43-interacting protein 150 kDa; connexin-43-interacting protein of 150 kDa; FLJ12580; guanine nucleotide exchange factor subunit RIC1; KIAA1432; protein RIC1 homolog; RAB6A GEF complex partner 1; RAB6A-GEF complex partner protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3895,629,107 - 5,778,633 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl95,629,025 - 5,776,557 (+)EnsemblGRCh38hg38GRCh38
GRCh3795,629,107 - 5,776,557 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3695,646,654 - 5,764,309 (+)NCBINCBI36Build 36hg18NCBI36
Celera95,554,974 - 5,714,045 (+)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef95,584,858 - 5,732,422 (+)NCBIHuRef
CHM1_195,629,314 - 5,777,233 (+)NCBICHM1_1
T2T-CHM13v2.095,634,236 - 5,782,557 (+)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
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:10718198   PMID:11230166   PMID:12477932   PMID:14702039   PMID:16112082   PMID:21873635   PMID:23091056   PMID:23716474   PMID:26472760   PMID:28611215   PMID:29117863   PMID:29507755  
PMID:29568061   PMID:31932796   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34432599   PMID:35044719   PMID:35748872   PMID:36493769   PMID:36774506   PMID:38777146  


Genomics

Comparative Map Data
RIC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3895,629,107 - 5,778,633 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl95,629,025 - 5,776,557 (+)EnsemblGRCh38hg38GRCh38
GRCh3795,629,107 - 5,776,557 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3695,646,654 - 5,764,309 (+)NCBINCBI36Build 36hg18NCBI36
Celera95,554,974 - 5,714,045 (+)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef95,584,858 - 5,732,422 (+)NCBIHuRef
CHM1_195,629,314 - 5,777,233 (+)NCBICHM1_1
T2T-CHM13v2.095,634,236 - 5,782,557 (+)NCBIT2T-CHM13v2.0
Ric1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391929,499,637 - 29,583,909 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1929,499,682 - 29,584,229 (+)EnsemblGRCm39 Ensembl
GRCm381929,522,216 - 29,605,921 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1929,522,282 - 29,606,829 (+)EnsemblGRCm38mm10GRCm38
MGSCv371929,596,772 - 29,680,411 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361929,588,279 - 29,671,918 (+)NCBIMGSCv36mm8
Celera1930,298,756 - 30,382,415 (+)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1924.07NCBI
Ric1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81236,698,901 - 236,798,099 (+)NCBIGRCr8
mRatBN7.21227,285,510 - 227,384,553 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1227,285,210 - 227,382,863 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01247,688,778 - 247,784,219 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1247,688,789 - 247,781,875 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01254,939,213 - 255,038,567 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41233,219,303 - 233,321,540 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11233,383,325 - 233,481,250 (+)NCBI
Celera1224,435,684 - 224,535,464 (+)NCBICelera
Cytogenetic Map1q52NCBI
Ric1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554349,675,654 - 9,770,174 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554349,675,654 - 9,770,174 (+)NCBIChiLan1.0ChiLan1.0
RIC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211118,794,754 - 118,942,752 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19118,800,701 - 118,948,719 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v095,449,982 - 5,598,891 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.195,633,779 - 5,779,884 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl95,633,779 - 5,779,884 (+)Ensemblpanpan1.1panPan2
RIC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1193,735,158 - 93,843,331 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl193,735,077 - 93,841,401 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha194,142,949 - 94,286,256 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0194,287,792 - 94,435,452 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl194,287,834 - 94,435,402 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1193,921,123 - 94,066,322 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0193,645,906 - 93,791,320 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0194,410,355 - 94,553,959 (+)NCBIUU_Cfam_GSD_1.0
Ric1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947141,837,760 - 141,952,194 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936539290,416 - 404,881 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936539290,429 - 404,928 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RIC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1216,382,128 - 216,494,793 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11216,382,179 - 216,494,815 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21242,115,087 - 242,257,751 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RIC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11273,738,646 - 73,887,518 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1273,740,954 - 73,886,295 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603862,122,693 - 62,277,102 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ric1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473610,161,772 - 10,337,585 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RIC1
116 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001135920.2(RIC1):c.3409G>A (p.Gly1137Arg) single nucleotide variant Malignant melanoma [RCV000068683] Chr9:5769241 [GRCh38]
Chr9:5769241 [GRCh37]
Chr9:5759241 [NCBI36]
Chr9:9p24.1		 not provided
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 copy number loss See cases [RCV000136787] Chr9:4152060..8518353 [GRCh38]
Chr9:4152060..8518353 [GRCh37]
Chr9:4142060..8508353 [NCBI36]
Chr9:9p24.2-24.1		 pathogenic
GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 copy number gain See cases [RCV000136729] Chr9:3591159..9361786 [GRCh38]
Chr9:3591159..9361786 [GRCh37]
Chr9:3581159..9351786 [NCBI36]
Chr9:9p24.2-23		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
NM_020829.4(RIC1):c.2047C>T (p.Gln683Ter) single nucleotide variant Seizure [RCV001786526] Chr9:5762595 [GRCh38]
Chr9:5762595 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.1(chr9:5508646-5711512)x1 copy number loss See cases [RCV000446292] Chr9:5508646..5711512 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5598936-5883409)x1 copy number loss See cases [RCV000510614] Chr9:5598936..5883409 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
NM_020829.4(RIC1):c.749T>A (p.Val250Asp) single nucleotide variant not specified [RCV004300529] Chr9:5732416 [GRCh38]
Chr9:5732416 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3380C>G (p.Ala1127Gly) single nucleotide variant not specified [RCV004308069] Chr9:5769212 [GRCh38]
Chr9:5769212 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5449153-5900427)x1 copy number loss not provided [RCV000683121] Chr9:5449153..5900427 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5750198-5751219)x1 copy number loss not provided [RCV000748144] Chr9:5750198..5751219 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:5750198-5756067)x1 copy number loss not provided [RCV000748145] Chr9:5750198..5756067 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.1(chr9:5774225-5816033)x1 copy number loss not provided [RCV000748146] Chr9:5774225..5816033 [GRCh37]
Chr9:9p24.1		 benign
NM_020829.4(RIC1):c.71A>T (p.His24Leu) single nucleotide variant not specified [RCV004315150] Chr9:5629380 [GRCh38]
Chr9:5629380 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_020829.4(RIC1):c.1656C>A (p.Val552=) single nucleotide variant not provided [RCV000948812] Chr9:5754894 [GRCh38]
Chr9:5754894 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro) single nucleotide variant Catifa syndrome [RCV000999463] Chr9:5772741 [GRCh38]
Chr9:5772741 [GRCh37]
Chr9:9p24.1		 pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NC_000009.11:g.(?_5629106)_(5776558_?)del deletion not specified [RCV004699917] Chr9:5629106..5776558 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.921A>G (p.Gly307=) single nucleotide variant not provided [RCV000956698] Chr9:5742888 [GRCh38]
Chr9:5742888 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4 copy number gain not provided [RCV002472665] Chr9:203862..5958840 [GRCh37]
Chr9:9p24.3-24.1		 likely pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.1(chr9:4613939-6144065)x1 copy number loss not provided [RCV001006191] Chr9:4613939..6144065 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1 copy number loss See cases [RCV002285070] Chr9:203861..10283912 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12127088) copy number loss Chromosome 9p deletion syndrome [RCV002280766] Chr9:203861..12127088 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_020829.4(RIC1):c.453G>C (p.Val151=) single nucleotide variant not provided [RCV004597645] Chr9:5720194 [GRCh38]
Chr9:5720194 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677) copy number gain Global developmental delay [RCV001352644] Chr9:2854435..6937677 [GRCh37]
Chr9:9p24.2-24.1		 pathogenic
NM_020829.4(RIC1):c.812+4T>C single nucleotide variant Catifa syndrome [RCV001731047]|not provided [RCV004713090] Chr9:5732483 [GRCh38]
Chr9:5732483 [GRCh37]
Chr9:9p24.1		 benign
NM_020829.4(RIC1):c.4251T>G (p.Thr1417=) single nucleotide variant Catifa syndrome [RCV001731049]|not provided [RCV004713092] Chr9:5774225 [GRCh38]
Chr9:5774225 [GRCh37]
Chr9:9p24.1		 benign
NM_020829.4(RIC1):c.441-10C>G single nucleotide variant Catifa syndrome [RCV001731046]|not provided [RCV004713089] Chr9:5720172 [GRCh38]
Chr9:5720172 [GRCh37]
Chr9:9p24.1		 benign
NM_020829.4(RIC1):c.1993-8A>C single nucleotide variant Catifa syndrome [RCV001731048]|not provided [RCV004713091] Chr9:5762533 [GRCh38]
Chr9:5762533 [GRCh37]
Chr9:9p24.1		 benign
Single allele deletion Chromosome 9p deletion syndrome [RCV002247737] Chr9:203987..11602476 [GRCh38]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152) copy number loss not specified [RCV002053808] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331) copy number loss not specified [RCV002053809] Chr9:203861..7759331 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) copy number loss not specified [RCV002053814] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) copy number loss not specified [RCV002053810] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) copy number loss not specified [RCV002053812] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5508646-5711512) copy number loss not specified [RCV002053834] Chr9:5508646..5711512 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1365T>G (p.Ser455Arg) single nucleotide variant not provided [RCV002214487] Chr9:5747418 [GRCh38]
Chr9:5747418 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.527G>A (p.Arg176Lys) single nucleotide variant not specified [RCV004301768] Chr9:5720268 [GRCh38]
Chr9:5720268 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_020829.4(RIC1):c.1337C>A (p.Ser446Tyr) single nucleotide variant not provided [RCV002293199] Chr9:5747390 [GRCh38]
Chr9:5747390 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101) copy number loss Chromosome 9p deletion syndrome [RCV002280769] Chr9:4992582..19322101 [GRCh37]
Chr9:9p24.1-22.1		 pathogenic
Single allele duplication not provided [RCV002266756] Chr9:4954044..5872261 [GRCh38]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823) copy number loss Chromosome 9p deletion syndrome [RCV002280770] Chr9:203861..7959823 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
NM_020829.4(RIC1):c.2333C>T (p.Pro778Leu) single nucleotide variant Catifa syndrome [RCV002287311] Chr9:5763360 [GRCh38]
Chr9:5763360 [GRCh37]
Chr9:9p24.1		 likely pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12570076) copy number loss Chromosome 9p deletion syndrome [RCV002280768] Chr9:203861..12570076 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_020829.4(RIC1):c.1367G>A (p.Arg456Gln) single nucleotide variant Catifa syndrome [RCV002471522] Chr9:5747420 [GRCh38]
Chr9:5747420 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1154C>T (p.Thr385Ile) single nucleotide variant not specified [RCV004092552] Chr9:5745989 [GRCh38]
Chr9:5745989 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1850A>G (p.Asp617Gly) single nucleotide variant not specified [RCV004112733] Chr9:5756369 [GRCh38]
Chr9:5756369 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3881A>G (p.Asn1294Ser) single nucleotide variant not specified [RCV004236317] Chr9:5772978 [GRCh38]
Chr9:5772978 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.345A>C (p.Gln115His) single nucleotide variant not specified [RCV004190534] Chr9:5713908 [GRCh38]
Chr9:5713908 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.788G>C (p.Arg263Pro) single nucleotide variant not specified [RCV004148937] Chr9:5732455 [GRCh38]
Chr9:5732455 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.2073C>G (p.Ile691Met) single nucleotide variant not specified [RCV004124724] Chr9:5762621 [GRCh38]
Chr9:5762621 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3858T>G (p.Ile1286Met) single nucleotide variant not specified [RCV004196766] Chr9:5772955 [GRCh38]
Chr9:5772955 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3574C>T (p.Pro1192Ser) single nucleotide variant not specified [RCV004177057] Chr9:5770236 [GRCh38]
Chr9:5770236 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1511T>C (p.Leu504Pro) single nucleotide variant not specified [RCV004096558] Chr9:5753555 [GRCh38]
Chr9:5753555 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3405A>C (p.Lys1135Asn) single nucleotide variant not specified [RCV004083301] Chr9:5769237 [GRCh38]
Chr9:5769237 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.2927G>A (p.Arg976Gln) single nucleotide variant not specified [RCV004126473] Chr9:5765499 [GRCh38]
Chr9:5765499 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1381T>A (p.Phe461Ile) single nucleotide variant not specified [RCV004161282] Chr9:5747434 [GRCh38]
Chr9:5747434 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3592T>G (p.Phe1198Val) single nucleotide variant not specified [RCV004120389] Chr9:5770254 [GRCh38]
Chr9:5770254 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3454G>C (p.Ala1152Pro) single nucleotide variant not specified [RCV004188223] Chr9:5770116 [GRCh38]
Chr9:5770116 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3203G>A (p.Arg1068Gln) single nucleotide variant not specified [RCV004220321] Chr9:5769035 [GRCh38]
Chr9:5769035 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3071A>G (p.Asn1024Ser) single nucleotide variant not specified [RCV004098460] Chr9:5765732 [GRCh38]
Chr9:5765732 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3272T>G (p.Ile1091Ser) single nucleotide variant not specified [RCV004134007] Chr9:5769104 [GRCh38]
Chr9:5769104 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1904G>A (p.Arg635His) single nucleotide variant not provided [RCV003434651]|not specified [RCV004198444] Chr9:5757363 [GRCh38]
Chr9:5757363 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.605C>T (p.Thr202Ile) single nucleotide variant not specified [RCV004117646] Chr9:5720635 [GRCh38]
Chr9:5720635 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1903C>T (p.Arg635Cys) single nucleotide variant not specified [RCV004180610] Chr9:5757362 [GRCh38]
Chr9:5757362 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.2954T>C (p.Ile985Thr) single nucleotide variant not specified [RCV004173498] Chr9:5765526 [GRCh38]
Chr9:5765526 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.2272C>T (p.Arg758Cys) single nucleotide variant not specified [RCV004175897] Chr9:5763299 [GRCh38]
Chr9:5763299 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1473G>C (p.Glu491Asp) single nucleotide variant not specified [RCV004130327] Chr9:5753220 [GRCh38]
Chr9:5753220 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.4118G>A (p.Arg1373Gln) single nucleotide variant not specified [RCV004078725] Chr9:5774092 [GRCh38]
Chr9:5774092 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.4180A>T (p.Ser1394Cys) single nucleotide variant not specified [RCV004154476] Chr9:5774154 [GRCh38]
Chr9:5774154 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1969A>G (p.Ile657Val) single nucleotide variant not specified [RCV004129668] Chr9:5757428 [GRCh38]
Chr9:5757428 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3625T>G (p.Cys1209Gly) single nucleotide variant not specified [RCV004118536] Chr9:5772572 [GRCh38]
Chr9:5772572 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1207T>C (p.Phe403Leu) single nucleotide variant not specified [RCV004120509] Chr9:5746042 [GRCh38]
Chr9:5746042 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.704G>A (p.Ser235Asn) single nucleotide variant not specified [RCV004175987] Chr9:5720734 [GRCh38]
Chr9:5720734 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3283T>C (p.Cys1095Arg) single nucleotide variant not specified [RCV004155304] Chr9:5769115 [GRCh38]
Chr9:5769115 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1445T>C (p.Val482Ala) single nucleotide variant not specified [RCV004134596] Chr9:5747498 [GRCh38]
Chr9:5747498 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3533G>A (p.Gly1178Asp) single nucleotide variant not specified [RCV004158489] Chr9:5770195 [GRCh38]
Chr9:5770195 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3206G>A (p.Arg1069His) single nucleotide variant not specified [RCV004077546] Chr9:5769038 [GRCh38]
Chr9:5769038 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3764A>T (p.Lys1255Ile) single nucleotide variant Catifa syndrome [RCV003148219]|not specified [RCV004246155] Chr9:5772711 [GRCh38]
Chr9:5772711 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3347A>G (p.Lys1116Arg) single nucleotide variant not specified [RCV004263115] Chr9:5769179 [GRCh38]
Chr9:5769179 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.2068C>A (p.Gln690Lys) single nucleotide variant not specified [RCV004286896] Chr9:5762616 [GRCh38]
Chr9:5762616 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.4099C>G (p.Pro1367Ala) single nucleotide variant not specified [RCV004258012] Chr9:5774073 [GRCh38]
Chr9:5774073 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.2475G>T (p.Gln825His) single nucleotide variant Catifa syndrome [RCV003130412] Chr9:5763502 [GRCh38]
Chr9:5763502 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.772G>A (p.Val258Ile) single nucleotide variant not specified [RCV004326201] Chr9:5732439 [GRCh38]
Chr9:5732439 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3176T>C (p.Ile1059Thr) single nucleotide variant not specified [RCV004300687] Chr9:5769008 [GRCh38]
Chr9:5769008 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.618C>T (p.Ile206=) single nucleotide variant not provided [RCV003425601] Chr9:5720648 [GRCh38]
Chr9:5720648 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.1285C>T (p.Arg429Cys) single nucleotide variant not specified [RCV004365140] Chr9:5747338 [GRCh38]
Chr9:5747338 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.274T>A (p.Phe92Ile) single nucleotide variant not specified [RCV004354851] Chr9:5689980 [GRCh38]
Chr9:5689980 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1148A>C (p.Gln383Pro) single nucleotide variant not specified [RCV004347503] Chr9:5745983 [GRCh38]
Chr9:5745983 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1168G>C (p.Asp390His) single nucleotide variant not provided [RCV003434752]|not specified [RCV004340190] Chr9:5746003 [GRCh38]
Chr9:5746003 [GRCh37]
Chr9:9p24.1		 likely benign|uncertain significance
NM_020829.4(RIC1):c.4201G>C (p.Glu1401Gln) single nucleotide variant not specified [RCV004365556] Chr9:5774175 [GRCh38]
Chr9:5774175 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.2424A>C (p.Arg808Ser) single nucleotide variant not specified [RCV004360701] Chr9:5763451 [GRCh38]
Chr9:5763451 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.187T>C (p.Ser63Pro) single nucleotide variant not specified [RCV004359413] Chr9:5656625 [GRCh38]
Chr9:5656625 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_020829.4(RIC1):c.3294T>C (p.Arg1098=) single nucleotide variant not provided [RCV003457550] Chr9:5769126 [GRCh38]
Chr9:5769126 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.1(chr9:5174638-5722779)x3 copy number gain not provided [RCV003484767] Chr9:5174638..5722779 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1251T>C (p.Ser417=) single nucleotide variant not provided [RCV003435701] Chr9:5747304 [GRCh38]
Chr9:5747304 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.1878A>G (p.Gln626=) single nucleotide variant not provided [RCV003435702] Chr9:5757337 [GRCh38]
Chr9:5757337 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.2304C>T (p.Ile768=) single nucleotide variant not provided [RCV003435703] Chr9:5763331 [GRCh38]
Chr9:5763331 [GRCh37]
Chr9:9p24.1		 likely benign
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_020829.4(RIC1):c.3211T>C (p.Leu1071=) single nucleotide variant not provided [RCV003425602] Chr9:5769043 [GRCh38]
Chr9:5769043 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1 copy number loss not specified [RCV003986852] Chr9:203862..8548307 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 copy number loss not specified [RCV003986799] Chr9:203861..19302836 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_020829.4(RIC1):c.3611A>G (p.Asn1204Ser) single nucleotide variant RIC1-related disorder [RCV003949089]|not provided [RCV003885764] Chr9:5770273 [GRCh38]
Chr9:5770273 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 copy number loss not specified [RCV003986809] Chr9:203861..15508556 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1 copy number loss not specified [RCV003986818] Chr9:203861..9128400 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_020829.4(RIC1):c.1932A>G (p.Val644=) single nucleotide variant not provided [RCV003887245] Chr9:5757391 [GRCh38]
Chr9:5757391 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.1175G>T (p.Arg392Met) single nucleotide variant not provided [RCV003992983] Chr9:5746010 [GRCh38]
Chr9:5746010 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.145-9del deletion RIC1-related disorder [RCV003921804] Chr9:5656573 [GRCh38]
Chr9:5656573 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.3424+70A>G single nucleotide variant RIC1-related disorder [RCV003929863] Chr9:5769326 [GRCh38]
Chr9:5769326 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.1051A>G (p.Arg351Gly) single nucleotide variant RIC1-related disorder [RCV003962223] Chr9:5743693 [GRCh38]
Chr9:5743693 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.4203GGA[1] (p.Glu1402del) microsatellite RIC1-related disorder [RCV003959769] Chr9:5774175..5774177 [GRCh38]
Chr9:5774175..5774177 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.1808C>G (p.Ala603Gly) single nucleotide variant RIC1-related disorder [RCV003949500] Chr9:5756327 [GRCh38]
Chr9:5756327 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.1328C>G (p.Pro443Arg) single nucleotide variant RIC1-related disorder [RCV003944052] Chr9:5747381 [GRCh38]
Chr9:5747381 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.981C>T (p.Tyr327=) single nucleotide variant not provided [RCV003885213] Chr9:5742948 [GRCh38]
Chr9:5742948 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.1416C>G (p.Ser472Arg) single nucleotide variant not specified [RCV004451528] Chr9:5747469 [GRCh38]
Chr9:5747469 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1738C>T (p.His580Tyr) single nucleotide variant not specified [RCV004451530] Chr9:5756257 [GRCh38]
Chr9:5756257 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1805G>C (p.Arg602Thr) single nucleotide variant not specified [RCV004451532] Chr9:5756324 [GRCh38]
Chr9:5756324 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.320C>G (p.Pro107Arg) single nucleotide variant not specified [RCV004451537] Chr9:5690026 [GRCh38]
Chr9:5690026 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3926T>C (p.Met1309Thr) single nucleotide variant not specified [RCV004451545] Chr9:5773023 [GRCh38]
Chr9:5773023 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3955G>A (p.Ala1319Thr) single nucleotide variant not specified [RCV004451546] Chr9:5773052 [GRCh38]
Chr9:5773052 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3982T>A (p.Cys1328Ser) single nucleotide variant not specified [RCV004451547] Chr9:5773079 [GRCh38]
Chr9:5773079 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.4052A>T (p.Glu1351Val) single nucleotide variant not specified [RCV004451548] Chr9:5774026 [GRCh38]
Chr9:5774026 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.4081A>G (p.Ile1361Val) single nucleotide variant not specified [RCV004451550] Chr9:5774055 [GRCh38]
Chr9:5774055 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.4207G>A (p.Asp1403Asn) single nucleotide variant not specified [RCV004451554] Chr9:5774181 [GRCh38]
Chr9:5774181 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.668A>G (p.Asn223Ser) single nucleotide variant not specified [RCV004451555] Chr9:5720698 [GRCh38]
Chr9:5720698 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.176C>G (p.Pro59Arg) single nucleotide variant not specified [RCV004451531] Chr9:5656614 [GRCh38]
Chr9:5656614 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3460C>A (p.Pro1154Thr) single nucleotide variant not specified [RCV004451540] Chr9:5770122 [GRCh38]
Chr9:5770122 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.4203G>C (p.Glu1401Asp) single nucleotide variant not specified [RCV004451553] Chr9:5774177 [GRCh38]
Chr9:5774177 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3308G>C (p.Arg1103Pro) single nucleotide variant not specified [RCV004451538] Chr9:5769140 [GRCh38]
Chr9:5769140 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.570G>T (p.Leu190=) single nucleotide variant not provided [RCV004585611] Chr9:5720311 [GRCh38]
Chr9:5720311 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.1356T>C (p.His452=) single nucleotide variant not provided [RCV004585541] Chr9:5747409 [GRCh38]
Chr9:5747409 [GRCh37]
Chr9:9p24.1		 benign
NM_020829.4(RIC1):c.1275G>C (p.Gln425His) single nucleotide variant not specified [RCV004451527] Chr9:5747328 [GRCh38]
Chr9:5747328 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3202C>T (p.Arg1068Trp) single nucleotide variant not specified [RCV004451536] Chr9:5769034 [GRCh38]
Chr9:5769034 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3377C>A (p.Pro1126Gln) single nucleotide variant not specified [RCV004451539] Chr9:5769209 [GRCh38]
Chr9:5769209 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3874A>G (p.Ile1292Val) single nucleotide variant not specified [RCV004451544] Chr9:5772971 [GRCh38]
Chr9:5772971 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.4154G>T (p.Ser1385Ile) single nucleotide variant not specified [RCV004451552] Chr9:5774128 [GRCh38]
Chr9:5774128 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.988C>G (p.Leu330Val) single nucleotide variant not specified [RCV004451557] Chr9:5742955 [GRCh38]
Chr9:5742955 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1549G>A (p.Ala517Thr) single nucleotide variant not specified [RCV004451529] Chr9:5753593 [GRCh38]
Chr9:5753593 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.2341G>C (p.Val781Leu) single nucleotide variant not specified [RCV004451535] Chr9:5763368 [GRCh38]
Chr9:5763368 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3710C>T (p.Thr1237Ile) single nucleotide variant not specified [RCV004451543] Chr9:5772657 [GRCh38]
Chr9:5772657 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.405G>A (p.Met135Ile) single nucleotide variant not specified [RCV004451549] Chr9:5713968 [GRCh38]
Chr9:5713968 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.866C>G (p.Ser289Cys) single nucleotide variant not specified [RCV004451556] Chr9:5738503 [GRCh38]
Chr9:5738503 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1135G>A (p.Gly379Arg) single nucleotide variant not specified [RCV004451526] Chr9:5745970 [GRCh38]
Chr9:5745970 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.1927G>A (p.Val643Met) single nucleotide variant not specified [RCV004451533] Chr9:5757386 [GRCh38]
Chr9:5757386 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.2075G>A (p.Arg692Gln) single nucleotide variant not specified [RCV004451534] Chr9:5762623 [GRCh38]
Chr9:5762623 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3582G>C (p.Met1194Ile) single nucleotide variant not specified [RCV004451541] Chr9:5770244 [GRCh38]
Chr9:5770244 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3651G>C (p.Leu1217Phe) single nucleotide variant not specified [RCV004451542] Chr9:5772598 [GRCh38]
Chr9:5772598 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.4117C>T (p.Arg1373Trp) single nucleotide variant not specified [RCV004451551] Chr9:5774091 [GRCh38]
Chr9:5774091 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.788G>A (p.Arg263Gln) single nucleotide variant not specified [RCV004663084] Chr9:5732455 [GRCh38]
Chr9:5732455 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.174_186delinsAGGC (p.Pro59_Ser62delinsGly) indel Catifa syndrome [RCV004594832] Chr9:5656612..5656624 [GRCh38]
Chr9:5656612..5656624 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.2842A>C (p.Asn948His) single nucleotide variant not specified [RCV004663086] Chr9:5765414 [GRCh38]
Chr9:5765414 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.4108A>T (p.Thr1370Ser) single nucleotide variant not specified [RCV004663088] Chr9:5774082 [GRCh38]
Chr9:5774082 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.2277G>T (p.Lys759Asn) single nucleotide variant not specified [RCV004671972] Chr9:5763304 [GRCh38]
Chr9:5763304 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3551T>C (p.Ile1184Thr) single nucleotide variant not specified [RCV004671973] Chr9:5770213 [GRCh38]
Chr9:5770213 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.4213G>A (p.Ala1405Thr) single nucleotide variant not specified [RCV004663087] Chr9:5774187 [GRCh38]
Chr9:5774187 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.440+3A>T single nucleotide variant not provided [RCV004698021] Chr9:5714006 [GRCh38]
Chr9:5714006 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.3553G>C (p.Asp1185His) single nucleotide variant not specified [RCV004663085] Chr9:5770215 [GRCh38]
Chr9:5770215 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.4184dup (p.Asn1395fs) duplication not provided [RCV004699023] Chr9:5774156..5774157 [GRCh38]
Chr9:5774156..5774157 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_020829.4(RIC1):c.576A>G (p.Ser192=) single nucleotide variant not provided [RCV004727377] Chr9:5720317 [GRCh38]
Chr9:5720317 [GRCh37]
Chr9:9p24.1		 likely benign
NM_020829.4(RIC1):c.845G>T (p.Ser282Ile) single nucleotide variant not provided [RCV004699024] Chr9:5738482 [GRCh38]
Chr9:5738482 [GRCh37]
Chr9:9p24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3623
Count of miRNA genes:1071
Interacting mature miRNAs:1305
Transcripts:ENST00000251879, ENST00000276898, ENST00000381532, ENST00000414202, ENST00000418622, ENST00000449720, ENST00000490816, ENST00000545243, ENST00000545641
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407209414GWAS858390_Hrespiratory system disease QTL GWAS858390 (human)7e-08respiratory system disease957746615774662Human
406954823GWAS603799_Hatopic asthma QTL GWAS603799 (human)1e-09atopic asthma957656485765649Human
1357299AASTH47_HAllergic/atopic asthma related QTL 47 (human)0.00028Reversible airflow obstruction9528914931289149Human
407190349GWAS839325_Hserum metabolite measurement QTL GWAS839325 (human)0.000003serum metabolite measurement957659845765985Human
407190348GWAS839324_Hserum metabolite measurement QTL GWAS839324 (human)0.000005serum metabolite measurement956445555644556Human
407009321GWAS658297_Hsex hormone-binding globulin measurement QTL GWAS658297 (human)1e-13sex hormone-binding globulin measurement957376925737693Human
406991087GWAS640063_Hsex hormone-binding globulin measurement QTL GWAS640063 (human)2e-10sex hormone-binding globulin measurement957376925737693Human
407306295GWAS955271_Halkaline phosphatase measurement QTL GWAS955271 (human)3e-32alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)956291335629134Human
407390424GWAS1039400_Hurate measurement, spine bone mineral density QTL GWAS1039400 (human)0.000008urate measurement, spine bone mineral densitybone mineral density (CMO:0001226)957011865701187Human
407269622GWAS918598_Hsex hormone-binding globulin measurement QTL GWAS918598 (human)0.0000001sex hormone-binding globulin measurement957376925737693Human
407266644GWAS915620_Hsex hormone-binding globulin measurement QTL GWAS915620 (human)0.0000002sex hormone-binding globulin measurement957376925737693Human
407270517GWAS919493_Hbody height QTL GWAS919493 (human)2e-15body height (VT:0001253)body height (CMO:0000106)956321305632131Human
1643245BW137_HBody weight QTL 137 (human)2.28Body weight9528914931289149Human
2302773MAMTS18_HMammary tumor susceptibility QTL 18 (human)0.039Mammary tumor susceptibility9528914931289149Human
406923862GWAS572838_Hbalding measurement QTL GWAS572838 (human)3e-10balding measurementcoat/hair morphological measurement (CMO:0001807)956445555644556Human
406981690GWAS630666_Hvenous thromboembolism, response to antineoplastic agent QTL GWAS630666 (human)0.000004venous thromboembolism, response to antineoplastic agent957319745731975Human
2315898GLUCO191_HGlucose level QTL 191 (human)1.83Glucose level9528914931289149Human
406999483GWAS648459_Hsex hormone-binding globulin measurement QTL GWAS648459 (human)3e-14sex hormone-binding globulin measurement957376925737693Human
2293400PRSTS224_HProstate tumor susceptibility QTL 224 (human)1.62Prostate tumor susceptibility9528914931289149Human
2293433PRSTS223_HProstate tumor susceptibility QTL 223 (human)1.6Prostate tumor susceptibility9528914931289149Human
407254232GWAS903208_Halkaline phosphatase measurement QTL GWAS903208 (human)5e-46alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)956303445630345Human
407389462GWAS1038438_Hserum gamma-glutamyl transferase measurement QTL GWAS1038438 (human)3e-14serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)956327215632722Human

Markers in Region
STS-N30228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,775,856 - 5,776,011UniSTSGRCh37
Build 3695,765,856 - 5,766,011RGDNCBI36
Celera95,713,344 - 5,713,499RGD
Cytogenetic Map9p24.1UniSTS
HuRef95,731,721 - 5,731,876UniSTS
GeneMap99-GB4 RH Map927.18UniSTS
NCBI RH Map953.5UniSTS
WI-12458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,776,419 - 5,776,544UniSTSGRCh37
Build 3695,766,419 - 5,766,544RGDNCBI36
Celera95,713,907 - 5,714,032RGD
Cytogenetic Map9p24.1UniSTS
HuRef95,732,284 - 5,732,409UniSTS
GeneMap99-GB4 RH Map927.18UniSTS
Whitehead-RH Map931.7UniSTS
NCBI RH Map967.0UniSTS
RH94330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,764,248 - 5,764,378UniSTSGRCh37
Build 3695,754,248 - 5,754,378RGDNCBI36
Celera95,701,735 - 5,701,865RGD
Cytogenetic Map9p24.1UniSTS
HuRef95,720,112 - 5,720,242UniSTS
GeneMap99-GB4 RH Map927.18UniSTS
SHGC-148704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,769,598 - 5,769,921UniSTSGRCh37
Build 3695,759,598 - 5,759,921RGDNCBI36
Celera95,707,086 - 5,707,409RGD
Cytogenetic Map9p24.1UniSTS
HuRef95,725,463 - 5,725,786UniSTS
TNG Radiation Hybrid Map92694.0UniSTS
RH45769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,743,861 - 5,744,038UniSTSGRCh37
Build 3695,733,861 - 5,734,038RGDNCBI36
Celera95,681,347 - 5,681,524RGD
Cytogenetic Map9p24.1UniSTS
HuRef95,699,743 - 5,699,920UniSTS
GeneMap99-GB4 RH Map927.18UniSTS
NCBI RH Map967.0UniSTS
RH45366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,738,645 - 5,738,847UniSTSGRCh37
Build 3695,728,645 - 5,728,847RGDNCBI36
Celera95,676,131 - 5,676,333RGD
Cytogenetic Map9p24.1UniSTS
GeneMap99-GB4 RH Map927.18UniSTS
NCBI RH Map967.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1204 2436 2788 2249 4964 1726 2351 5 624 1951 465 2267 7298 6466 53 3728 1 852 1744 1617 174

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001135920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA250979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB205401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R44399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000251879   ⟹   ENSP00000251879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,629,025 - 5,769,674 (+)Ensembl
Ensembl Acc Id: ENST00000276898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,712,845 - 5,769,106 (+)Ensembl
Ensembl Acc Id: ENST00000414202   ⟹   ENSP00000416696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,629,107 - 5,776,557 (+)Ensembl
Ensembl Acc Id: ENST00000418622   ⟹   ENSP00000402240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,629,119 - 5,776,552 (+)Ensembl
Ensembl Acc Id: ENST00000490816   ⟹   ENSP00000438005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,770,206 - 5,773,204 (+)Ensembl
Ensembl Acc Id: ENST00000545243   ⟹   ENSP00000442632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,763,397 - 5,775,238 (+)Ensembl
Ensembl Acc Id: ENST00000545641   ⟹   ENSP00000439488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl95,656,654 - 5,774,298 (+)Ensembl
RefSeq Acc Id: NM_001135920   ⟹   NP_001129392
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,629,107 - 5,769,704 (+)NCBI
GRCh3795,629,031 - 5,776,557 (+)NCBI
Celera95,554,974 - 5,714,045 (+)RGD
HuRef95,584,858 - 5,732,422 (+)ENTREZGENE
CHM1_195,629,314 - 5,770,132 (+)NCBI
T2T-CHM13v2.095,634,236 - 5,774,848 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206557   ⟹   NP_001193486
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,629,107 - 5,776,557 (+)NCBI
GRCh3795,629,031 - 5,776,557 (+)NCBI
HuRef95,584,858 - 5,732,422 (+)ENTREZGENE
CHM1_195,629,314 - 5,777,233 (+)NCBI
T2T-CHM13v2.095,634,236 - 5,781,699 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020829   ⟹   NP_065880
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,629,107 - 5,776,557 (+)NCBI
GRCh3795,629,031 - 5,776,557 (+)NCBI
Build 3695,646,654 - 5,764,309 (+)NCBI Archive
Celera95,554,974 - 5,714,045 (+)RGD
HuRef95,584,858 - 5,732,422 (+)ENTREZGENE
CHM1_195,629,314 - 5,777,233 (+)NCBI
T2T-CHM13v2.095,634,236 - 5,781,699 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251523   ⟹   XP_005251580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,629,107 - 5,776,557 (+)NCBI
GRCh3795,629,031 - 5,776,557 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517967   ⟹   XP_011516269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,732,390 - 5,776,557 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517968   ⟹   XP_011516270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,748,626 - 5,776,557 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014934   ⟹   XP_016870423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,689,959 - 5,776,557 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014935   ⟹   XP_016870424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,690,045 - 5,776,557 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014936   ⟹   XP_016870425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,656,672 - 5,776,557 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423609   ⟹   XP_047279565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,629,107 - 5,776,557 (+)NCBI
RefSeq Acc Id: XM_047423610   ⟹   XP_047279566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,690,045 - 5,776,557 (+)NCBI
RefSeq Acc Id: XM_047423611   ⟹   XP_047279567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,748,626 - 5,776,557 (+)NCBI
RefSeq Acc Id: XM_054363329   ⟹   XP_054219304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,634,236 - 5,781,699 (+)NCBI
RefSeq Acc Id: XM_054363330   ⟹   XP_054219305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,634,236 - 5,781,699 (+)NCBI
RefSeq Acc Id: XM_054363331   ⟹   XP_054219306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,695,161 - 5,781,699 (+)NCBI
RefSeq Acc Id: XM_054363332   ⟹   XP_054219307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,695,075 - 5,781,699 (+)NCBI
RefSeq Acc Id: XM_054363333   ⟹   XP_054219308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,661,808 - 5,781,699 (+)NCBI
RefSeq Acc Id: XM_054363334   ⟹   XP_054219309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,695,161 - 5,781,699 (+)NCBI
RefSeq Acc Id: XM_054363335   ⟹   XP_054219310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,737,519 - 5,781,699 (+)NCBI
RefSeq Acc Id: XM_054363336   ⟹   XP_054219311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,753,766 - 5,781,699 (+)NCBI
RefSeq Acc Id: XR_007061330
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,629,107 - 5,778,633 (+)NCBI
RefSeq Acc Id: XR_007061331
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,629,107 - 5,778,633 (+)NCBI
RefSeq Acc Id: XR_007061332
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,629,107 - 5,778,633 (+)NCBI
RefSeq Acc Id: XR_008488049
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,634,236 - 5,782,557 (+)NCBI
RefSeq Acc Id: XR_008488050
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,634,236 - 5,782,557 (+)NCBI
RefSeq Acc Id: XR_008488051
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,634,236 - 5,782,557 (+)NCBI
RefSeq Acc Id: XR_008488052
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.095,634,236 - 5,782,557 (+)NCBI
RefSeq Acc Id: XR_428426
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,629,107 - 5,778,633 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129392 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193486 (Get FASTA)   NCBI Sequence Viewer  
  NP_065880 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251580 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516269 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516270 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870423 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870424 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870425 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279565 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279566 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279567 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219304 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219305 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219306 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219307 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219308 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219309 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219310 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219311 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH30576 (Get FASTA)   NCBI Sequence Viewer  
  AAI36617 (Get FASTA)   NCBI Sequence Viewer  
  AAI44297 (Get FASTA)   NCBI Sequence Viewer  
  BAA92670 (Get FASTA)   NCBI Sequence Viewer  
  BAB14150 (Get FASTA)   NCBI Sequence Viewer  
  BAB84976 (Get FASTA)   NCBI Sequence Viewer  
  BAE16982 (Get FASTA)   NCBI Sequence Viewer  
  CAB66809 (Get FASTA)   NCBI Sequence Viewer  
  EAW58759 (Get FASTA)   NCBI Sequence Viewer  
  EAW58760 (Get FASTA)   NCBI Sequence Viewer  
  EAW58761 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000251879
  ENSP00000251879.6
  ENSP00000402240
  ENSP00000402240.4
  ENSP00000416696
  ENSP00000416696.2
  ENSP00000438005.1
  ENSP00000439488.1
  ENSP00000442632.1
GenBank Protein Q4ADV7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_065880   ⟸   NM_020829
- Peptide Label: isoform a
- UniProtKB: Q9H0A5 (UniProtKB/Swiss-Prot),   Q8TEH4 (UniProtKB/Swiss-Prot),   Q8N6E0 (UniProtKB/Swiss-Prot),   Q76MT5 (UniProtKB/Swiss-Prot),   Q4VXJ9 (UniProtKB/Swiss-Prot),   Q4VXJ8 (UniProtKB/Swiss-Prot),   G5E932 (UniProtKB/Swiss-Prot),   B7ZM67 (UniProtKB/Swiss-Prot),   B2RN24 (UniProtKB/Swiss-Prot),   Q9H9S1 (UniProtKB/Swiss-Prot),   Q4ADV7 (UniProtKB/Swiss-Prot),   H0YFN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129392   ⟸   NM_001135920
- Peptide Label: isoform b
- UniProtKB: Q4ADV7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193486   ⟸   NM_001206557
- Peptide Label: isoform c
- UniProtKB: H0YFN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251580   ⟸   XM_005251523
- Peptide Label: isoform X1
- UniProtKB: H0YFN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516269   ⟸   XM_011517967
- Peptide Label: isoform X5
- UniProtKB: H0YFN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516270   ⟸   XM_011517968
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016870423   ⟸   XM_017014934
- Peptide Label: isoform X3
- UniProtKB: H0YFN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870425   ⟸   XM_017014936
- Peptide Label: isoform X3
- UniProtKB: H0YFN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870424   ⟸   XM_017014935
- Peptide Label: isoform X3
- UniProtKB: H0YFN7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000438005   ⟸   ENST00000490816
Ensembl Acc Id: ENSP00000442632   ⟸   ENST00000545243
Ensembl Acc Id: ENSP00000439488   ⟸   ENST00000545641
Ensembl Acc Id: ENSP00000416696   ⟸   ENST00000414202
Ensembl Acc Id: ENSP00000402240   ⟸   ENST00000418622
Ensembl Acc Id: ENSP00000251879   ⟸   ENST00000251879
RefSeq Acc Id: XP_047279565   ⟸   XM_047423609
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279566   ⟸   XM_047423610
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279567   ⟸   XM_047423611
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054219304   ⟸   XM_054363329
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219305   ⟸   XM_054363330
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219308   ⟸   XM_054363333
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219307   ⟸   XM_054363332
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219306   ⟸   XM_054363331
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219309   ⟸   XM_054363334
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054219310   ⟸   XM_054363335
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054219311   ⟸   XM_054363336
- Peptide Label: isoform X6
Protein Domains
Ribosome control protein

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4ADV7-F1-model_v2 AlphaFold Q4ADV7 1-1423 view protein structure

Promoters
RGD ID:7214629
Promoter ID:EPDNEW_H13060
Type:initiation region
Name:RIC1_2
Description:RIC1 homolog, RAB6A GEF complex partner 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13062  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,628,878 - 5,628,938EPDNEW
RGD ID:7214633
Promoter ID:EPDNEW_H13062
Type:initiation region
Name:RIC1_1
Description:RIC1 homolog, RAB6A GEF complex partner 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13060  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,629,107 - 5,629,167EPDNEW
RGD ID:6807821
Promoter ID:HG_KWN:62550
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003ZJJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,703,101 - 5,703,601 (+)MPROMDB
RGD ID:6807275
Promoter ID:HG_KWN:62553
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003ZJL.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,763,696 - 5,764,867 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17686 AgrOrtholog
COSMIC RIC1 COSMIC
Ensembl Genes ENSG00000107036 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000251879 ENTREZGENE
  ENST00000251879.10 UniProtKB/Swiss-Prot
  ENST00000414202 ENTREZGENE
  ENST00000414202.7 UniProtKB/Swiss-Prot
  ENST00000418622 ENTREZGENE
  ENST00000418622.7 UniProtKB/Swiss-Prot
  ENST00000490816.1 UniProtKB/TrEMBL
  ENST00000545243.1 UniProtKB/TrEMBL
  ENST00000545641.5 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107036 GTEx
HGNC ID HGNC:17686 ENTREZGENE
Human Proteome Map RIC1 Human Proteome Map
InterPro Ribosome_control_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ric1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57589 UniProtKB/Swiss-Prot
NCBI Gene 57589 ENTREZGENE
OMIM 610354 OMIM
PANTHER GUANINE NUCLEOTIDE EXCHANGE FACTOR SUBUNIT RIC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22746 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RIC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134884486 PharmGKB
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RN24 ENTREZGENE
  B7ZM67 ENTREZGENE
  G5E932 ENTREZGENE
  H0YFD4_HUMAN UniProtKB/TrEMBL
  H0YFN7 ENTREZGENE, UniProtKB/TrEMBL
  H0YGC4_HUMAN UniProtKB/TrEMBL
  Q4ADV7 ENTREZGENE
  Q4VXJ8 ENTREZGENE
  Q4VXJ9 ENTREZGENE
  Q76MT5 ENTREZGENE
  Q8N6E0 ENTREZGENE
  Q8TEH4 ENTREZGENE
  Q9H0A5 ENTREZGENE
  Q9H9S1 ENTREZGENE
  RIC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RN24 UniProtKB/Swiss-Prot
  B7ZM67 UniProtKB/Swiss-Prot
  G5E932 UniProtKB/Swiss-Prot
  Q4VXJ8 UniProtKB/Swiss-Prot
  Q4VXJ9 UniProtKB/Swiss-Prot
  Q76MT5 UniProtKB/Swiss-Prot
  Q8N6E0 UniProtKB/Swiss-Prot
  Q8TEH4 UniProtKB/Swiss-Prot
  Q9H0A5 UniProtKB/Swiss-Prot
  Q9H9S1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-28 RIC1  RIC1 homolog, RAB6A GEF complex partner 1    RAB6A GEF complex partner 1  Symbol and/or name change 5135510 APPROVED
2014-07-29 RIC1  RAB6A GEF complex partner 1  KIAA1432  KIAA1432  Symbol and/or name change 5135510 APPROVED