GRIP1 (glutamate receptor interacting protein 1) - Rat Genome Database

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Gene: GRIP1 (glutamate receptor interacting protein 1) Homo sapiens
Analyze
Symbol: GRIP1
Name: glutamate receptor interacting protein 1
RGD ID: 1345662
HGNC Page HGNC
Description: Enables glucocorticoid receptor binding activity and protein C-terminus binding activity. Predicted to be involved in neurotransmitter receptor transport, endosome to postsynaptic membrane and positive regulation of neuron projection arborization. Predicted to act upstream of or within protein localization. Predicted to be located in several cellular components, including neuron projection; neuronal cell body; and recycling endosome. Predicted to be active in glutamatergic synapse and postsynaptic density. Implicated in Fraser syndrome 3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FRASRS3; glutamate receptor-interacting protein 1; GRIP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: GRIP1 (Gene ID: 23426) and NCOA2 (Gene ID: 10499) share the GRIP1 symbol/alias in common. GRIP1 is a widely used alternative name for nuclear receptor coactivator 2 (NCOA2), which can be confused with the official symbol for glutamate receptor-interacting protein 1 (GRIP1). [06 Jul 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1266,347,431 - 67,069,162 (-)EnsemblGRCh38hg38GRCh38
GRCh381266,347,431 - 67,069,338 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371266,741,211 - 67,463,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361265,029,066 - 65,359,020 (-)NCBINCBI36hg18NCBI36
Build 341265,028,871 - 65,145,401NCBI
Celera1266,405,432 - 66,737,052 (-)NCBI
Cytogenetic Map12q14.3NCBI
HuRef1263,792,018 - 64,123,720 (-)NCBIHuRef
CHM1_11266,708,221 - 67,039,968 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal hair pattern  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Ambiguous genitalia  (IAGP)
Anal atresia  (IAGP)
Anal stenosis  (IAGP)
Anophthalmia  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicornuate uterus  (IAGP)
Bifid tongue  (IAGP)
Blindness  (IAGP)
Calvarial skull defect  (IAGP)
Cleft ala nasi  (IAGP)
Cleft upper lip  (IAGP)
Conductive hearing impairment  (IAGP)
Convex nasal ridge  (IAGP)
Cryptophthalmos  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous syndactyly  (IAGP)
Death in infancy  (IAGP)
Dental crowding  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Ectopic anus  (IAGP)
Encephalocele  (IAGP)
External ear malformation  (IAGP)
Female pseudohermaphroditism  (IAGP)
Finger syndactyly  (IAGP)
High palate  (IAGP)
Hydrops fetalis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the bladder  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Lacrimal duct aplasia  (IAGP)
Laryngeal stenosis  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Malformed lacrimal duct  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Midline nasal groove  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Myelomeningocele  (IAGP)
Omphalocele  (IAGP)
Pulmonary hypoplasia  (IAGP)
Renal hypoplasia  (IAGP)
Scrotal hypoplasia  (IAGP)
Short toe  (IAGP)
Subglottic stenosis  (IAGP)
Toe syndactyly  (IAGP)
Tracheal atresia  (IAGP)
Tracheal stenosis  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped nasal alae  (IAGP)
Urethral atresia  (IAGP)
Vaginal atresia  (IAGP)
Vertebral segmentation defect  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
Wide pubic symphysis  (IAGP)
References

Additional References at PubMed
PMID:9773983   PMID:9849963   PMID:9883737   PMID:10379889   PMID:10607837   PMID:10896157   PMID:11027271   PMID:11477071   PMID:11641419   PMID:11891216   PMID:11983685   PMID:11997499  
PMID:12011465   PMID:12458226   PMID:12477932   PMID:12571287   PMID:12597860   PMID:14702039   PMID:14718928   PMID:14726489   PMID:14966289   PMID:15226318   PMID:15231748   PMID:15471871  
PMID:15731352   PMID:16055064   PMID:16344560   PMID:16362036   PMID:16423881   PMID:16461774   PMID:16541075   PMID:16649994   PMID:16990252   PMID:17257825   PMID:17303296   PMID:17336575  
PMID:17426288   PMID:17545996   PMID:17631495   PMID:17704298   PMID:17882261   PMID:18155042   PMID:18311135   PMID:18315564   PMID:18950845   PMID:19086053   PMID:19736351   PMID:20379614  
PMID:20877300   PMID:21292004   PMID:21383172   PMID:21653829   PMID:21847098   PMID:21873635   PMID:22510445   PMID:24255178   PMID:24665060   PMID:24700879   PMID:24749734   PMID:24964207  
PMID:25458010   PMID:25673849   PMID:26186194   PMID:26505218   PMID:26638075   PMID:27425598   PMID:27609421   PMID:27941904   PMID:28514442   PMID:28718761   PMID:29170386   PMID:29395067  
PMID:29568061   PMID:29846670   PMID:31757889   PMID:32296183   PMID:33378226   PMID:33709629   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
GRIP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1266,347,431 - 67,069,162 (-)EnsemblGRCh38hg38GRCh38
GRCh381266,347,431 - 67,069,338 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371266,741,211 - 67,463,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361265,029,066 - 65,359,020 (-)NCBINCBI36hg18NCBI36
Build 341265,028,871 - 65,145,401NCBI
Celera1266,405,432 - 66,737,052 (-)NCBI
Cytogenetic Map12q14.3NCBI
HuRef1263,792,018 - 64,123,720 (-)NCBIHuRef
CHM1_11266,708,221 - 67,039,968 (-)NCBICHM1_1
Grip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910119,289,810 - 119,923,172 (+)NCBIGRCm39mm39
GRCm39 Ensembl10119,289,735 - 119,923,166 (+)Ensembl
GRCm3810119,453,238 - 120,087,267 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10119,453,830 - 120,087,261 (+)EnsemblGRCm38mm10GRCm38
MGSCv3710118,891,370 - 119,512,653 (+)NCBIGRCm37mm9NCBIm37
MGSCv3610118,857,374 - 119,478,657 (+)NCBImm8
Celera10121,814,033 - 122,436,941 (+)NCBICelera
Cytogenetic Map10D2NCBI
cM Map1067.33NCBI
Grip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2754,934,856 - 55,592,274 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl754,934,250 - 55,592,273 (+)Ensembl
Rnor_6.0764,672,723 - 64,854,939 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl764,672,722 - 64,864,404 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0764,890,319 - 65,072,097 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4759,157,276 - 59,306,131 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1759,170,845 - 59,326,858 (+)NCBI
Celera752,073,046 - 52,340,208 (+)NCBICelera
Cytogenetic Map7q22NCBI
Grip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545812,967,089 - 13,214,838 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545812,970,858 - 13,179,369 (-)NCBIChiLan1.0ChiLan1.0
GRIP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11222,826,257 - 23,069,480 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1222,744,177 - 23,069,480 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01221,841,611 - 22,562,418 (+)NCBIMhudiblu_PPA_v0panPan3
GRIP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1108,801,023 - 9,187,684 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl108,802,529 - 9,063,848 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha108,731,329 - 9,389,361 (-)NCBI
ROS_Cfam_1.0108,912,752 - 9,572,589 (-)NCBI
UMICH_Zoey_3.1108,789,226 - 9,449,620 (-)NCBI
UNSW_CanFamBas_1.0109,034,586 - 9,695,263 (-)NCBI
UU_Cfam_GSD_1.0109,155,858 - 9,816,627 (-)NCBI
Grip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494549,107,221 - 49,757,054 (+)NCBI
SpeTri2.0NW_0049365454,353,056 - 4,606,196 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRIP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl530,697,018 - 31,020,790 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1530,697,018 - 31,175,412 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2533,972,164 - 34,714,229 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GRIP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11162,018,037 - 62,464,440 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1162,015,463 - 62,335,876 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037182,985,387 - 183,705,463 (+)NCBIVero_WHO_p1.0
Grip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248021,558,364 - 1,954,695 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D12S1461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371267,177,680 - 67,177,909UniSTSGRCh37
Build 361265,463,947 - 65,464,176RGDNCBI36
Celera1266,841,713 - 66,841,942RGD
Cytogenetic Map12q14.3UniSTS
HuRef1264,228,421 - 64,228,650UniSTS
Whitehead-RH Map12377.1UniSTS
Whitehead-YAC Contig Map12 UniSTS
WIAF-2203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371266,846,587 - 66,846,816UniSTSGRCh37
Build 361265,132,854 - 65,133,083RGDNCBI36
Celera1266,510,751 - 66,510,980RGD
Cytogenetic Map12q14.3UniSTS
HuRef1263,897,363 - 63,897,592UniSTS
GeneMap99-GB4 RH Map12287.88UniSTS
NCBI RH Map12502.8UniSTS
WI-21115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371266,846,564 - 66,846,816UniSTSGRCh37
Build 361265,132,831 - 65,133,083RGDNCBI36
Celera1266,510,728 - 66,510,980RGD
Cytogenetic Map12q14.3UniSTS
HuRef1263,897,340 - 63,897,592UniSTS
GeneMap99-GB4 RH Map12287.77UniSTS
Whitehead-RH Map12375.2UniSTS
SHGC-79745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371266,762,737 - 66,763,044UniSTSGRCh37
Build 361265,049,004 - 65,049,311RGDNCBI36
Celera1266,426,951 - 66,427,258RGD
Cytogenetic Map12q14.3UniSTS
HuRef1263,813,505 - 63,813,812UniSTS
TNG Radiation Hybrid Map124166.0UniSTS
SHGC-83274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371267,023,129 - 67,023,415UniSTSGRCh37
Build 361265,309,396 - 65,309,682RGDNCBI36
Celera1266,687,286 - 66,687,572RGD
Cytogenetic Map12q14.3UniSTS
HuRef1264,073,921 - 64,074,207UniSTS
TNG Radiation Hybrid Map1231977.0UniSTS
SHGC-82457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371266,797,381 - 66,797,575UniSTSGRCh37
Build 361265,083,648 - 65,083,842RGDNCBI36
Celera1266,461,615 - 66,461,809RGD
Cytogenetic Map12q14.3UniSTS
HuRef1263,848,169 - 63,848,363UniSTS
TNG Radiation Hybrid Map124185.0UniSTS
D12S1485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371266,741,123 - 66,741,268UniSTSGRCh37
Build 361265,027,390 - 65,027,535RGDNCBI36
Celera1266,405,344 - 66,405,489RGD
Cytogenetic Map12q14.3UniSTS
HuRef1263,791,930 - 63,792,075UniSTS
G64820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371267,144,816 - 67,144,919UniSTSGRCh37
Build 361265,431,083 - 65,431,186RGDNCBI36
Celera1266,808,849 - 66,808,952RGD
Cytogenetic Map12q14.3UniSTS
HuRef1264,195,556 - 64,195,659UniSTS
G64817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371267,149,430 - 67,149,611UniSTSGRCh37
Build 361265,435,697 - 65,435,878RGDNCBI36
Celera1266,813,463 - 66,813,644RGD
Cytogenetic Map12q14.3UniSTS
HuRef1264,200,170 - 64,200,351UniSTS
SHGC-141905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371267,089,445 - 67,089,718UniSTSGRCh37
Build 361265,375,712 - 65,375,985RGDNCBI36
Celera1266,753,575 - 66,753,848RGD
Cytogenetic Map12q14.3UniSTS
HuRef1264,140,258 - 64,140,531UniSTS
TNG Radiation Hybrid Map1231922.0UniSTS
SHGC-30860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371266,765,674 - 66,765,801UniSTSGRCh37
Build 361265,051,941 - 65,052,068RGDNCBI36
Celera1266,429,888 - 66,430,015RGD
Cytogenetic Map12q14.3UniSTS
HuRef1263,816,442 - 63,816,569UniSTS
GeneMap99-G3 RH Map122685.0UniSTS
G17669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371267,059,514 - 67,059,603UniSTSGRCh37
Build 361265,345,781 - 65,345,870RGDNCBI36
Celera1266,723,641 - 66,723,730RGD
Cytogenetic Map12q14.3UniSTS
HuRef1264,110,309 - 64,110,398UniSTS
GRIP1_3128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371266,742,425 - 66,742,952UniSTSGRCh37
Build 361265,028,692 - 65,029,219RGDNCBI36
Celera1266,406,646 - 66,407,173RGD
HuRef1263,793,232 - 63,793,759UniSTS
SGC30924  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q14.3UniSTS
HuRef1264,108,711 - 64,108,859UniSTS
GeneMap99-GB4 RH Map12287.26UniSTS
Whitehead-RH Map12377.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3875
Count of miRNA genes:1161
Interacting mature miRNAs:1414
Transcripts:ENST00000286445, ENST00000359742, ENST00000398016, ENST00000535002, ENST00000535323, ENST00000536215, ENST00000538164, ENST00000538211, ENST00000538373, ENST00000539540, ENST00000540433, ENST00000540854, ENST00000541299, ENST00000541947, ENST00000542021, ENST00000542309, ENST00000543172, ENST00000545666
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 12 11 17 98 4 35 26 63 64 16 4
Low 2131 468 1115 211 575 54 1647 994 2199 367 1318 1010 169 346 795
Below cutoff 272 2400 555 370 1060 369 2559 1151 1464 23 60 523 2 847 1945

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC122686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC134511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI190011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA801887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359742   ⟹   ENSP00000352780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,347,431 - 66,679,076 (-)Ensembl
RefSeq Acc Id: ENST00000398016   ⟹   ENSP00000381098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,347,431 - 66,678,973 (-)Ensembl
RefSeq Acc Id: ENST00000535002   ⟹   ENSP00000440918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,445,396 - 66,465,422 (-)Ensembl
RefSeq Acc Id: ENST00000535323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,349,179 - 66,372,341 (-)Ensembl
RefSeq Acc Id: ENST00000535721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,891,876 - 67,069,162 (-)Ensembl
RefSeq Acc Id: ENST00000536215   ⟹   ENSP00000446011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,371,819 - 66,571,058 (-)Ensembl
RefSeq Acc Id: ENST00000538164   ⟹   ENSP00000439053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,348,825 - 66,517,922 (-)Ensembl
RefSeq Acc Id: ENST00000538211   ⟹   ENSP00000446047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,349,036 - 66,679,145 (-)Ensembl
RefSeq Acc Id: ENST00000538373   ⟹   ENSP00000446067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,541,872 - 66,804,186 (-)Ensembl
RefSeq Acc Id: ENST00000539540   ⟹   ENSP00000443392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,517,949 - 66,803,980 (-)Ensembl
RefSeq Acc Id: ENST00000540433   ⟹   ENSP00000446024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,371,754 - 66,804,114 (-)Ensembl
RefSeq Acc Id: ENST00000540854   ⟹   ENSP00000443006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,348,827 - 66,539,108 (-)Ensembl
RefSeq Acc Id: ENST00000541299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,371,864 - 66,392,532 (-)Ensembl
RefSeq Acc Id: ENST00000541947   ⟹   ENSP00000438921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,529,845 - 66,804,186 (-)Ensembl
RefSeq Acc Id: ENST00000542021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,394,328 - 66,407,431 (-)Ensembl
RefSeq Acc Id: ENST00000542309   ⟹   ENSP00000438500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,515,727 - 66,647,349 (-)Ensembl
RefSeq Acc Id: ENST00000543172   ⟹   ENSP00000443860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,444,725 - 66,517,939 (-)Ensembl
RefSeq Acc Id: ENST00000545666   ⟹   ENSP00000439124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,515,630 - 66,678,934 (-)Ensembl
RefSeq Acc Id: ENST00000643019   ⟹   ENSP00000495444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1266,596,847 - 67,069,162 (-)Ensembl
RefSeq Acc Id: NM_001178074   ⟹   NP_001171545
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 66,679,076 (-)NCBI
GRCh371266,741,178 - 67,463,014 (-)NCBI
HuRef1263,792,018 - 64,123,720 (-)ENTREZGENE
CHM1_11266,708,221 - 67,039,968 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366722   ⟹   NP_001353651
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 66,679,076 (-)NCBI
RefSeq Acc Id: NM_001366723   ⟹   NP_001353652
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 66,804,269 (-)NCBI
RefSeq Acc Id: NM_001366724   ⟹   NP_001353653
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 66,804,269 (-)NCBI
RefSeq Acc Id: NM_001379345   ⟹   NP_001366274
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 66,804,269 (-)NCBI
RefSeq Acc Id: NM_001379346   ⟹   NP_001366275
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 66,679,076 (-)NCBI
RefSeq Acc Id: NM_001379347   ⟹   NP_001366276
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 66,804,269 (-)NCBI
RefSeq Acc Id: NM_001379348   ⟹   NP_001366277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 66,804,269 (-)NCBI
RefSeq Acc Id: NM_001379349   ⟹   NP_001366278
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 67,069,338 (-)NCBI
RefSeq Acc Id: NM_001379351   ⟹   NP_001366280
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 67,069,338 (-)NCBI
RefSeq Acc Id: NM_021150   ⟹   NP_066973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,431 - 66,679,076 (-)NCBI
GRCh371266,741,178 - 67,463,014 (-)NCBI
Build 361265,029,066 - 65,359,020 (-)NCBI Archive
HuRef1263,792,018 - 64,123,720 (-)ENTREZGENE
CHM1_11266,708,221 - 67,039,968 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005268754   ⟹   XP_005268811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,663 - 67,069,265 (-)NCBI
GRCh371266,741,178 - 67,463,014 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005268757   ⟹   XP_005268814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,663 - 67,069,265 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019098   ⟹   XP_016874587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,743 - 66,646,372 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019100   ⟹   XP_016874589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,347,663 - 66,646,372 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001171545   ⟸   NM_001178074
- Peptide Label: isoform 2
- UniProtKB: Q9Y3R0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_066973   ⟸   NM_021150
- Peptide Label: isoform 1
- UniProtKB: Q9Y3R0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005268814   ⟸   XM_005268757
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005268811   ⟸   XM_005268754
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016874589   ⟸   XM_017019100
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016874587   ⟸   XM_017019098
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001353652   ⟸   NM_001366723
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001353653   ⟸   NM_001366724
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001353651   ⟸   NM_001366722
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001366280   ⟸   NM_001379351
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001366278   ⟸   NM_001379349
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001366277   ⟸   NM_001379348
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001366276   ⟸   NM_001379347
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001366274   ⟸   NM_001379345
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001366275   ⟸   NM_001379346
- Peptide Label: isoform 7
RefSeq Acc Id: ENSP00000381098   ⟸   ENST00000398016
RefSeq Acc Id: ENSP00000352780   ⟸   ENST00000359742
RefSeq Acc Id: ENSP00000438921   ⟸   ENST00000541947
RefSeq Acc Id: ENSP00000438500   ⟸   ENST00000542309
RefSeq Acc Id: ENSP00000443860   ⟸   ENST00000543172
RefSeq Acc Id: ENSP00000439124   ⟸   ENST00000545666
RefSeq Acc Id: ENSP00000440918   ⟸   ENST00000535002
RefSeq Acc Id: ENSP00000446011   ⟸   ENST00000536215
RefSeq Acc Id: ENSP00000439053   ⟸   ENST00000538164
RefSeq Acc Id: ENSP00000446047   ⟸   ENST00000538211
RefSeq Acc Id: ENSP00000446067   ⟸   ENST00000538373
RefSeq Acc Id: ENSP00000443392   ⟸   ENST00000539540
RefSeq Acc Id: ENSP00000495444   ⟸   ENST00000643019
RefSeq Acc Id: ENSP00000446024   ⟸   ENST00000540433
RefSeq Acc Id: ENSP00000443006   ⟸   ENST00000540854
Protein Domains
Galectin   PDZ

Promoters
RGD ID:7224727
Promoter ID:EPDNEW_H18109
Type:initiation region
Name:GRIP1_3
Description:glutamate receptor interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18110  EPDNEW_H18111  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381266,678,977 - 66,679,037EPDNEW
RGD ID:7224729
Promoter ID:EPDNEW_H18110
Type:initiation region
Name:GRIP1_2
Description:glutamate receptor interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18109  EPDNEW_H18111  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381267,069,336 - 67,069,396EPDNEW
RGD ID:7224731
Promoter ID:EPDNEW_H18111
Type:initiation region
Name:GRIP1_1
Description:glutamate receptor interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18109  EPDNEW_H18110  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381267,069,613 - 67,069,673EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021150.4(GRIP1):c.2513_2515del (p.Phe838del) deletion not provided [RCV000723130] Chr12:66377236..66377238 [GRCh38]
Chr12:66771016..66771018 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.2269+1G>C single nucleotide variant Fraser syndrome 3 [RCV000030648] Chr12:66392676 [GRCh38]
Chr12:66786456 [GRCh37]
Chr12:12q14.3
pathogenic
NM_001366722.1(GRIP1):c.1337_1340del (p.Lys446fs) microsatellite Fraser syndrome 3 [RCV000030649] Chr12:66455423..66455426 [GRCh38]
Chr12:66849203..66849206 [GRCh37]
Chr12:12q14.3
pathogenic
GRCh38/hg38 12q14.2-15(chr12:64368308-69123358)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]|See cases [RCV000052815] Chr12:64368308..69123358 [GRCh38]
Chr12:64762088..69517138 [GRCh37]
Chr12:63048355..67803405 [NCBI36]
Chr12:12q14.2-15
pathogenic
GRCh38/hg38 12q14.3-15(chr12:65958499-69057308)x1 copy number loss See cases [RCV000052816] Chr12:65958499..69057308 [GRCh38]
Chr12:66352279..69451088 [GRCh37]
Chr12:64638546..67737355 [NCBI36]
Chr12:12q14.3-15
pathogenic|likely pathogenic
NM_021150.3(GRIP1):c.2911G>A (p.Gly971Ser) single nucleotide variant Malignant melanoma [RCV000070164] Chr12:66353509 [GRCh38]
Chr12:66747289 [GRCh37]
Chr12:65033556 [NCBI36]
Chr12:12q14.3
not provided
NM_021150.3(GRIP1):c.1938C>T (p.Ile646=) single nucleotide variant Malignant melanoma [RCV000070165] Chr12:66394243 [GRCh38]
Chr12:66788023 [GRCh37]
Chr12:65074290 [NCBI36]
Chr12:12q14.3
not provided
NM_021150.3(GRIP1):c.1918G>A (p.Glu640Lys) single nucleotide variant Malignant melanoma [RCV000070166] Chr12:66394263 [GRCh38]
Chr12:66788043 [GRCh37]
Chr12:65074310 [NCBI36]
Chr12:12q14.3
not provided
NM_021150.3(GRIP1):c.1604C>T (p.Thr535Ile) single nucleotide variant Malignant melanoma [RCV000070167] Chr12:66432556 [GRCh38]
Chr12:66826336 [GRCh37]
Chr12:65112603 [NCBI36]
Chr12:12q14.3
not provided
NM_021150.3(GRIP1):c.1043-739C>T single nucleotide variant Malignant melanoma [RCV000070168] Chr12:66456303 [GRCh38]
Chr12:66850083 [GRCh37]
Chr12:65136350 [NCBI36]
Chr12:12q14.3
not provided
NM_021150.3(GRIP1):c.1683-330G>T single nucleotide variant Lung cancer [RCV000111206] Chr12:66406758 [GRCh38]
Chr12:66800538 [GRCh37]
Chr12:12q14.3
uncertain significance
NC_000012.12:g.66805228G>C single nucleotide variant Lung cancer [RCV000111208] Chr12:66805228 [GRCh38]
Chr12:67199008 [GRCh37]
Chr12:12q14.3
uncertain significance
NC_000012.12:g.66884025G>C single nucleotide variant Lung cancer [RCV000111209] Chr12:66884025 [GRCh38]
Chr12:67277805 [GRCh37]
Chr12:12q14.3
uncertain significance
NC_000012.12:g.66928980G>C single nucleotide variant Lung cancer [RCV000111210] Chr12:66928980 [GRCh38]
Chr12:67322760 [GRCh37]
Chr12:12q14.3
uncertain significance
NC_000012.12:g.67051722C>T single nucleotide variant Lung cancer [RCV000111211] Chr12:67051722 [GRCh38]
Chr12:67445502 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) single nucleotide variant Fraser syndrome 3 [RCV000678296]|not provided [RCV000767020]|not specified [RCV000255801] Chr12:66432560 [GRCh38]
Chr12:66826340 [GRCh37]
Chr12:12q14.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021150.4(GRIP1):c.1199-10_1199-8del deletion Fraser syndrome 1 [RCV000334394]|not provided [RCV000965245]|not specified [RCV000174157] Chr12:66445516..66445518 [GRCh38]
Chr12:66839296..66839298 [GRCh37]
Chr12:12q14.3
benign|likely benign
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) single nucleotide variant Fraser syndrome 3 [RCV000324499]|Intellectual disability [RCV001252267]|not provided [RCV000948400]|not specified [RCV000175478] Chr12:66379295 [GRCh38]
Chr12:66773075 [GRCh37]
Chr12:12q14.3
benign|likely benign|uncertain significance
GRCh38/hg38 12q14.3(chr12:66783512-66855222)x1 copy number loss See cases [RCV000134414] Chr12:66783512..66855222 [GRCh38]
Chr12:67177292..67249002 [GRCh37]
Chr12:65463559..65535269 [NCBI36]
Chr12:12q14.3
benign
GRCh38/hg38 12q14.3(chr12:66789696-66816559)x1 copy number loss See cases [RCV000134418] Chr12:66789696..66816559 [GRCh38]
Chr12:67183476..67210339 [GRCh37]
Chr12:65469743..65496606 [NCBI36]
Chr12:12q14.3
benign
GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1 copy number loss See cases [RCV000138985] Chr12:60907151..66568077 [GRCh38]
Chr12:61300932..66961857 [GRCh37]
Chr12:59587199..65248124 [NCBI36]
Chr12:12q14.1-14.3
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1 copy number loss See cases [RCV000142445] Chr12:65445176..71026337 [GRCh38]
Chr12:65838956..71420117 [GRCh37]
Chr12:64125223..69706384 [NCBI36]
Chr12:12q14.3-15
pathogenic
GRCh38/hg38 12q14.3(chr12:66657083-66796174)x1 copy number loss See cases [RCV000142889] Chr12:66657083..66796174 [GRCh38]
Chr12:67050863..67189954 [GRCh37]
Chr12:65337130..65476221 [NCBI36]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) single nucleotide variant Fraser syndrome 3 [RCV000361288]|not provided [RCV000180360] Chr12:66465330 [GRCh38]
Chr12:66859110 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.692C>T (p.Ala231Val) single nucleotide variant Fraser syndrome 3 [RCV000303537]|not provided [RCV000901262]|not specified [RCV000280546] Chr12:66515651 [GRCh38]
Chr12:66909431 [GRCh37]
Chr12:12q14.3
benign|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) single nucleotide variant Fraser syndrome 3 [RCV001114156]|Intellectual disability [RCV001252265]|not provided [RCV000726538]|not specified [RCV000216399] Chr12:66392391 [GRCh38]
Chr12:66786171 [GRCh37]
Chr12:12q14.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001366722.1(GRIP1):c.1838+13G>T single nucleotide variant Fraser syndrome 1 [RCV000351116]|Fraser syndrome 3 [RCV001094088]|not specified [RCV000244279] Chr12:66420707 [GRCh38]
Chr12:66814487 [GRCh37]
Chr12:12q14.3
benign
NM_001366722.1(GRIP1):c.724+10G>A single nucleotide variant Fraser syndrome 1 [RCV000264282]|Fraser syndrome 3 [RCV001094175]|not specified [RCV000249539] Chr12:66515609 [GRCh38]
Chr12:66909389 [GRCh37]
Chr12:12q14.3
benign
NM_001366722.1(GRIP1):c.503-15C>A single nucleotide variant Fraser syndrome 1 [RCV000273033]|Fraser syndrome 3 [RCV001094212]|not provided [RCV001610722]|not specified [RCV000244788] Chr12:66517991 [GRCh38]
Chr12:66911771 [GRCh37]
Chr12:12q14.3
benign
NM_001366722.1(GRIP1):c.2464+15T>C single nucleotide variant Fraser syndrome 1 [RCV000290142]|Fraser syndrome 3 [RCV001094207]|not provided [RCV001597023]|not specified [RCV000252195] Chr12:66392293 [GRCh38]
Chr12:66786073 [GRCh37]
Chr12:12q14.3
benign
NM_138694.4(PKHD1):c.8302+2T>C single nucleotide variant Fraser syndrome 1 [RCV000328734]|Fraser syndrome 3 [RCV001094208]|not provided [RCV001683102]|not specified [RCV000247437] Chr12:66392311 [GRCh38]
Chr12:66786091 [GRCh37]
Chr12:12q14.3
benign
NM_001366722.1(GRIP1):c.1389G>A (p.Gly463=) single nucleotide variant Fraser syndrome 3 [RCV000300442] Chr12:66445474 [GRCh38]
Chr12:66839254 [GRCh37]
Chr12:12q14.3
likely benign|uncertain significance
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) single nucleotide variant Fraser syndrome 3 [RCV000289115]|not provided [RCV000893655] Chr12:66392489 [GRCh38]
Chr12:66786269 [GRCh37]
Chr12:12q14.3
benign|likely benign|uncertain significance
NM_001366722.1(GRIP1):c.2870G>A (p.Arg957His) single nucleotide variant Fraser syndrome 3 [RCV000354621] Chr12:66371836 [GRCh38]
Chr12:66765616 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*616T>C single nucleotide variant Fraser syndrome 3 [RCV000291068] Chr12:66348403 [GRCh38]
Chr12:66742183 [GRCh37]
Chr12:12q14.3
benign
NM_001366722.1(GRIP1):c.*428C>T single nucleotide variant Fraser syndrome 3 [RCV000403820] Chr12:66348591 [GRCh38]
Chr12:66742371 [GRCh37]
Chr12:12q14.3
benign|uncertain significance
NM_001366722.1(GRIP1):c.1787C>G (p.Pro596Arg) single nucleotide variant Fraser syndrome 3 [RCV000292665]|not provided [RCV000903962] Chr12:66420771 [GRCh38]
Chr12:66814551 [GRCh37]
Chr12:12q14.3
benign|likely benign|uncertain significance
NM_001366722.1(GRIP1):c.-172A>G single nucleotide variant Fraser syndrome 3 [RCV000294298] Chr12:66679076 [GRCh38]
Chr12:67072856 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*930T>A single nucleotide variant Fraser syndrome 3 [RCV000277567] Chr12:66348089 [GRCh38]
Chr12:66741869 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.553G>A (p.Val185Ile) single nucleotide variant Fraser syndrome 3 [RCV000365283] Chr12:66517926 [GRCh38]
Chr12:66911706 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_022114.4(PRDM16):c.49G>A (p.Val17Ile) single nucleotide variant Fraser syndrome 3 [RCV000263545]|not provided [RCV001699353] Chr12:66353528 [GRCh38]
Chr12:66747308 [GRCh37]
Chr12:12q14.3
likely benign|uncertain significance
NM_001366722.1(GRIP1):c.2793G>A (p.Ser931=) single nucleotide variant Fraser syndrome 3 [RCV000266984] Chr12:66371913 [GRCh38]
Chr12:66765693 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*752_*754TAT[3] microsatellite Fraser syndrome 1 [RCV000262519] Chr12:66348261..66348262 [GRCh38]
Chr12:66742041..66742042 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.3176C>G (p.Thr1059Ser) single nucleotide variant not provided [RCV000337341] Chr12:66349230 [GRCh38]
Chr12:66743010 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*499A>G single nucleotide variant Fraser syndrome 3 [RCV000343716] Chr12:66348520 [GRCh38]
Chr12:66742300 [GRCh37]
Chr12:12q14.3
likely benign|uncertain significance
NM_001366722.1(GRIP1):c.*1261dup duplication Fraser syndrome 1 [RCV000366384] Chr12:66347757..66347758 [GRCh38]
Chr12:66741537..66741538 [GRCh37]
Chr12:12q14.3
conflicting interpretations of pathogenicity
NM_001366722.1(GRIP1):c.964G>A (p.Ala322Thr) single nucleotide variant Fraser syndrome 3 [RCV000393434]|not provided [RCV000513833] Chr12:66463002 [GRCh38]
Chr12:66856782 [GRCh37]
Chr12:12q14.3
benign|likely benign
NM_001366722.1(GRIP1):c.*716T>C single nucleotide variant Fraser syndrome 3 [RCV000323583] Chr12:66348303 [GRCh38]
Chr12:66742083 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*821T>G single nucleotide variant Fraser syndrome 3 [RCV000368983] Chr12:66348198 [GRCh38]
Chr12:66741978 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*234G>A single nucleotide variant Fraser syndrome 3 [RCV000395273] Chr12:66348785 [GRCh38]
Chr12:66742565 [GRCh37]
Chr12:12q14.3
likely benign|uncertain significance
NM_001366722.1(GRIP1):c.*1495_*1497dup duplication Fraser syndrome 1 [RCV000281731] Chr12:66347521..66347522 [GRCh38]
Chr12:66741301..66741302 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*679dup duplication Fraser syndrome 1 [RCV000282787] Chr12:66348339..66348340 [GRCh38]
Chr12:66742119..66742120 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=) single nucleotide variant not provided [RCV000341770] Chr12:66349199 [GRCh38]
Chr12:66742979 [GRCh37]
Chr12:12q14.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001366722.1(GRIP1):c.345C>T (p.Asp115=) single nucleotide variant Fraser syndrome 3 [RCV000325698] Chr12:66539151 [GRCh38]
Chr12:66932931 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1583A>G (p.Asn528Ser) single nucleotide variant Fraser syndrome 3 [RCV000349464] Chr12:66444688 [GRCh38]
Chr12:66838468 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1524_*1527del deletion Fraser syndrome 1 [RCV000373835] Chr12:66347492..66347495 [GRCh38]
Chr12:66741272..66741275 [GRCh37]
Chr12:12q14.3
likely benign
NM_001366722.1(GRIP1):c.*1261del deletion Fraser syndrome 1 [RCV000308024] Chr12:66347758 [GRCh38]
Chr12:66741538 [GRCh37]
Chr12:12q14.3
benign
NM_001366722.1(GRIP1):c.*655_*657dup duplication Fraser syndrome 1 [RCV000340093] Chr12:66348361..66348362 [GRCh38]
Chr12:66742141..66742142 [GRCh37]
Chr12:12q14.3
likely benign
NM_001366722.1(GRIP1):c.*1287A>T single nucleotide variant Fraser syndrome 3 [RCV000309286] Chr12:66347732 [GRCh38]
Chr12:66741512 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*85_*87dup duplication Fraser syndrome 1 [RCV000355925] Chr12:66348931..66348932 [GRCh38]
Chr12:66742711..66742712 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.2558G>A (p.Arg853Gln) single nucleotide variant Fraser syndrome 3 [RCV000377656] Chr12:66379343 [GRCh38]
Chr12:66773123 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*735_*738dup duplication Fraser syndrome 1 [RCV000372545] Chr12:66348280..66348281 [GRCh38]
Chr12:66742060..66742061 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.240A>G (p.Val80=) single nucleotide variant Fraser syndrome 3 [RCV000276324] Chr12:66541847 [GRCh38]
Chr12:66935627 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1444G>A (p.Gly482Arg) single nucleotide variant Fraser syndrome 3 [RCV000404379] Chr12:66445419 [GRCh38]
Chr12:66839199 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*695_*697dup duplication Fraser syndrome 1 [RCV000380569] Chr12:66348321..66348322 [GRCh38]
Chr12:66742101..66742102 [GRCh37]
Chr12:12q14.3
likely benign
NM_001366722.1(GRIP1):c.-158G>A single nucleotide variant Fraser syndrome 3 [RCV000333795] Chr12:66679062 [GRCh38]
Chr12:67072842 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.270T>C (p.Ala90=) single nucleotide variant Fraser syndrome 3 [RCV000382466] Chr12:66541817 [GRCh38]
Chr12:66935597 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1801G>A (p.Val601Ile) single nucleotide variant Fraser syndrome 3 [RCV000406417] Chr12:66420757 [GRCh38]
Chr12:66814537 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1299_*1301dup duplication Fraser syndrome 1 [RCV000397406] Chr12:66347717..66347718 [GRCh38]
Chr12:66741497..66741498 [GRCh37]
Chr12:12q14.3
likely benign
NM_001366722.1(GRIP1):c.*647_*650dup duplication Fraser syndrome 1 [RCV000404098] Chr12:66348368..66348369 [GRCh38]
Chr12:66742148..66742149 [GRCh37]
Chr12:12q14.3
likely benign
NM_001366722.1(GRIP1):c.*138C>T single nucleotide variant Fraser syndrome 3 [RCV000312944] Chr12:66348881 [GRCh38]
Chr12:66742661 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.-165A>C single nucleotide variant Fraser syndrome 3 [RCV000385971] Chr12:66679069 [GRCh38]
Chr12:67072849 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu) single nucleotide variant Fraser syndrome 3 [RCV000316249]|Intellectual disability [RCV001252266]|Microcephaly [RCV001252713] Chr12:66371821 [GRCh38]
Chr12:66765601 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1314G>A single nucleotide variant Fraser syndrome 3 [RCV000339755] Chr12:66347705 [GRCh38]
Chr12:66741485 [GRCh37]
Chr12:12q14.3
likely benign|uncertain significance
NM_001366722.1(GRIP1):c.*723_*725dup duplication Fraser syndrome 1 [RCV000280372] Chr12:66348293..66348294 [GRCh38]
Chr12:66742073..66742074 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1520A>T (p.Glu507Val) single nucleotide variant not provided [RCV000489704] Chr12:66445343 [GRCh38]
Chr12:66839123 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.2361G>A (p.Lys787=) single nucleotide variant Fraser syndrome 1 [RCV000380986] Chr12:66392411 [GRCh38]
Chr12:66786191 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1262T>A single nucleotide variant Fraser syndrome 3 [RCV000399060] Chr12:66347757 [GRCh38]
Chr12:66741537 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*915T>C single nucleotide variant Fraser syndrome 3 [RCV000330620] Chr12:66348104 [GRCh38]
Chr12:66741884 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1559dup duplication Fraser syndrome 1 [RCV000292149] Chr12:66347459..66347460 [GRCh38]
Chr12:66741239..66741240 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1328G>A single nucleotide variant Fraser syndrome 3 [RCV000304201] Chr12:66347691 [GRCh38]
Chr12:66741471 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.872+7A>G single nucleotide variant Fraser syndrome 3 [RCV000304287] Chr12:66465268 [GRCh38]
Chr12:66859048 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1422_*1426del deletion Fraser syndrome 1 [RCV000334443] Chr12:66347593..66347597 [GRCh38]
Chr12:66741373..66741377 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1548_*1551dup duplication Fraser syndrome 1 [RCV000349520] Chr12:66347467..66347468 [GRCh38]
Chr12:66741247..66741248 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*753_*757del deletion Fraser syndrome 1 [RCV000319962] Chr12:66348262..66348266 [GRCh38]
Chr12:66742042..66742046 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*235G>T single nucleotide variant Fraser syndrome 3 [RCV000371153] Chr12:66348784 [GRCh38]
Chr12:66742564 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1388_*1390dup duplication Fraser syndrome 1 [RCV000390700] Chr12:66347628..66347629 [GRCh38]
Chr12:66741408..66741409 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*417G>A single nucleotide variant Fraser syndrome 3 [RCV000314176] Chr12:66348602 [GRCh38]
Chr12:66742382 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.215T>C (p.Ile72Thr) single nucleotide variant not provided [RCV000592705] Chr12:66541872 [GRCh38]
Chr12:66935652 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_021150.4(GRIP1):c.1043-7C>G single nucleotide variant Fraser syndrome 3 [RCV001112877]|not provided [RCV000927609]|not specified [RCV000591061] Chr12:66455571 [GRCh38]
Chr12:66849351 [GRCh37]
Chr12:12q14.3
benign|likely benign
NM_001366722.1(GRIP1):c.1015C>T (p.Arg339Trp) single nucleotide variant not provided [RCV000585386] Chr12:66462951 [GRCh38]
Chr12:66856731 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_021150.4(GRIP1):c.1604_1605delinsAA (p.Thr535Lys) indel not provided [RCV000722561] Chr12:66432555..66432556 [GRCh38]
Chr12:66826335..66826336 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_021150.4(GRIP1):c.1451C>T (p.Thr484Ile) single nucleotide variant not provided [RCV000723019] Chr12:66444664 [GRCh38]
Chr12:66838444 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) single nucleotide variant Abnormality of brain morphology [RCV000454212]|Fraser syndrome 3 [RCV001110212]|not provided [RCV000893656] Chr12:66541927 [GRCh38]
Chr12:66935707 [GRCh37]
Chr12:12q14.3
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021150.4(GRIP1):c.1142G>T (p.Ser381Ile) single nucleotide variant Abnormality of brain morphology [RCV000454347] Chr12:66455465 [GRCh38]
Chr12:66849245 [GRCh37]
Chr12:12q14.3
likely pathogenic
GRCh37/hg19 12q14.3(chr12:66895380-66911133)x1 copy number loss See cases [RCV000446825] Chr12:66895380..66911133 [GRCh37]
Chr12:12q14.3
benign
GRCh37/hg19 12q14.3(chr12:67060604-67382121)x1 copy number loss See cases [RCV000446387] Chr12:67060604..67382121 [GRCh37]
Chr12:12q14.3
uncertain significance
GRCh37/hg19 12q14.1-15(chr12:59495114-70574966)x1 copy number loss See cases [RCV000447164] Chr12:59495114..70574966 [GRCh37]
Chr12:12q14.1-15
pathogenic
GRCh37/hg19 12q14.3(chr12:67056832-67189777)x1 copy number loss See cases [RCV000447519] Chr12:67056832..67189777 [GRCh37]
Chr12:12q14.3
likely benign
NM_001366722.1(GRIP1):c.1645A>G (p.Ile549Val) single nucleotide variant Fraser syndrome 3 [RCV001110879]|not provided [RCV000434726] Chr12:66444626 [GRCh38]
Chr12:66838406 [GRCh37]
Chr12:12q14.3
likely benign|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_001366722.1(GRIP1):c.2327G>A (p.Gly776Glu) single nucleotide variant not specified [RCV000502452] Chr12:66392445 [GRCh38]
Chr12:66786225 [GRCh37]
Chr12:12q14.3
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q14.3(chr12:66956100-66996001)x1 copy number loss not provided [RCV000683378] Chr12:66956100..66996001 [GRCh37]
Chr12:12q14.3
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q14.3(chr12:66748538-66756701)x1 copy number loss not provided [RCV000750446] Chr12:66748538..66756701 [GRCh37]
Chr12:12q14.3
benign
GRCh37/hg19 12q14.3(chr12:66756233-66756701)x1 copy number loss not provided [RCV000750447] Chr12:66756233..66756701 [GRCh37]
Chr12:12q14.3
benign
GRCh37/hg19 12q14.3(chr12:66904548-66910393)x1 copy number loss not provided [RCV000750448] Chr12:66904548..66910393 [GRCh37]
Chr12:12q14.3
benign
GRCh37/hg19 12q14.3(chr12:66904548-66911771)x1 copy number loss not provided [RCV000750449] Chr12:66904548..66911771 [GRCh37]
Chr12:12q14.3
benign
GRCh37/hg19 12q14.3(chr12:66908633-66909184)x0 copy number loss not provided [RCV000750450] Chr12:66908633..66909184 [GRCh37]
Chr12:12q14.3
benign
GRCh37/hg19 12q14.3(chr12:66908770-66910393)x0 copy number loss not provided [RCV000750451] Chr12:66908770..66910393 [GRCh37]
Chr12:12q14.3
benign
GRCh37/hg19 12q14.3(chr12:66908784-66910393)x1 copy number loss not provided [RCV000750452] Chr12:66908784..66910393 [GRCh37]
Chr12:12q14.3
benign
NM_201384.3(PLEC):c.12027C>T (p.Arg4009=) single nucleotide variant Fraser syndrome 3 [RCV001702202] Chr12:66539052 [GRCh38]
Chr12:66932832 [GRCh37]
Chr12:12q14.3
benign
NM_001366722.1(GRIP1):c.30T>A (p.Cys10Ter) single nucleotide variant not provided [RCV000760683] Chr12:66678875 [GRCh38]
Chr12:67072655 [GRCh37]
Chr12:12q14.3
likely pathogenic
NM_001366722.1(GRIP1):c.418+14C>A single nucleotide variant Fraser syndrome 3 [RCV001114238] Chr12:66539064 [GRCh38]
Chr12:66932844 [GRCh37]
Chr12:12q14.3
likely benign
NM_001366722.1(GRIP1):c.236G>A (p.Arg79Lys) single nucleotide variant Fraser syndrome 3 [RCV001114239] Chr12:66541851 [GRCh38]
Chr12:66935631 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_021150.4(GRIP1):c.2724G>A (p.Ser908=) single nucleotide variant not provided [RCV000881524] Chr12:66371826 [GRCh38]
Chr12:66765606 [GRCh37]
Chr12:12q14.3
benign
NM_021150.4(GRIP1):c.1065C>T (p.Phe355=) single nucleotide variant not provided [RCV000926615] Chr12:66455542 [GRCh38]
Chr12:66849322 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.207G>A (p.Ser69=) single nucleotide variant not provided [RCV000881700] Chr12:66541880 [GRCh38]
Chr12:66935660 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.3213A>T (p.Glu1071Asp) single nucleotide variant not provided [RCV000879073] Chr12:66349037 [GRCh38]
Chr12:66742817 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.1890C>T (p.Pro630=) single nucleotide variant not provided [RCV000921658] Chr12:66394291 [GRCh38]
Chr12:66788071 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.1719A>G (p.Ala573=) single nucleotide variant not provided [RCV000895717] Chr12:66406392 [GRCh38]
Chr12:66800172 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.735A>G (p.Ala245=) single nucleotide variant not provided [RCV000940672] Chr12:66465412 [GRCh38]
Chr12:66859192 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.2031A>G (p.Lys677=) single nucleotide variant not provided [RCV000880291] Chr12:66392759 [GRCh38]
Chr12:66786539 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.2730G>A (p.Pro910=) single nucleotide variant not provided [RCV000897863] Chr12:66371820 [GRCh38]
Chr12:66765600 [GRCh37]
Chr12:12q14.3
likely benign
NM_001366722.1(GRIP1):c.*667C>T single nucleotide variant Fraser syndrome 3 [RCV001114073] Chr12:66348352 [GRCh38]
Chr12:66742132 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.2394G>A (p.Thr798=) single nucleotide variant Fraser syndrome 3 [RCV001114155] Chr12:66392378 [GRCh38]
Chr12:66786158 [GRCh37]
Chr12:12q14.3
uncertain significance
GRCh37/hg19 12q14.3(chr12:66719794-67144575)x3 copy number gain not provided [RCV000847196] Chr12:66719794..67144575 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*617G>A single nucleotide variant Fraser syndrome 3 [RCV001114074] Chr12:66348402 [GRCh38]
Chr12:66742182 [GRCh37]
Chr12:12q14.3
uncertain significance
GRCh37/hg19 12q14.3(chr12:67052762-67199592)x1 copy number loss not provided [RCV000845901] Chr12:67052762..67199592 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.820A>G (p.Asn274Asp) single nucleotide variant Fraser syndrome 3 [RCV001112878] Chr12:66465327 [GRCh38]
Chr12:66859107 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*99G>A single nucleotide variant Fraser syndrome 3 [RCV001110812] Chr12:66348920 [GRCh38]
Chr12:66742700 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*4C>T single nucleotide variant Fraser syndrome 3 [RCV001110814] Chr12:66349015 [GRCh38]
Chr12:66742795 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.3332A>G (p.Gln1111Arg) single nucleotide variant Fraser syndrome 3 [RCV001110815] Chr12:66349074 [GRCh38]
Chr12:66742854 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.3199G>C (p.Val1067Leu) single nucleotide variant Fraser syndrome 3 [RCV001110819] Chr12:66349207 [GRCh38]
Chr12:66742987 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1880A>G (p.Asp627Gly) single nucleotide variant Fraser syndrome 3 [RCV001114157] Chr12:66406387 [GRCh38]
Chr12:66800167 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1794C>A (p.Asp598Glu) single nucleotide variant Fraser syndrome 3 [RCV001110121] Chr12:66420764 [GRCh38]
Chr12:66814544 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1687+12T>C single nucleotide variant Fraser syndrome 3 [RCV001110124] Chr12:66444572 [GRCh38]
Chr12:66838352 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.1635A>G (p.Gly545=) single nucleotide variant not provided [RCV000886549] Chr12:66420767 [GRCh38]
Chr12:66814547 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.1532-6T>C single nucleotide variant Fraser syndrome 3 [RCV001110123]|not provided [RCV000933203] Chr12:66432634 [GRCh38]
Chr12:66826414 [GRCh37]
Chr12:12q14.3
likely benign|uncertain significance
NM_001366722.1(GRIP1):c.1688-3T>C single nucleotide variant Fraser syndrome 3 [RCV001110122]|not provided [RCV000977299] Chr12:66432631 [GRCh38]
Chr12:66826411 [GRCh37]
Chr12:12q14.3
benign|likely benign
NM_021150.4(GRIP1):c.1272G>A (p.Thr424=) single nucleotide variant Fraser syndrome 3 [RCV001110881]|not provided [RCV000932111] Chr12:66445435 [GRCh38]
Chr12:66839215 [GRCh37]
Chr12:12q14.3
likely benign|uncertain significance
NM_021150.4(GRIP1):c.1532-8G>T single nucleotide variant not provided [RCV000906603] Chr12:66432636 [GRCh38]
Chr12:66826416 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.579-8C>T single nucleotide variant not provided [RCV000969274] Chr12:66515772 [GRCh38]
Chr12:66909552 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.1863C>T (p.Thr621=) single nucleotide variant not provided [RCV000907614] Chr12:66394318 [GRCh38]
Chr12:66788098 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.162C>T (p.Val54=) single nucleotide variant not provided [RCV000890987] Chr12:66541925 [GRCh38]
Chr12:66935705 [GRCh37]
Chr12:12q14.3
likely benign
NM_021150.4(GRIP1):c.55+9C>A single nucleotide variant not provided [RCV000889717] Chr12:66678841 [GRCh38]
Chr12:67072621 [GRCh37]
Chr12:12q14.3
likely benign
NM_001366722.1(GRIP1):c.2792C>T (p.Ser931Leu) single nucleotide variant not provided [RCV000994947] Chr12:66371914 [GRCh38]
Chr12:66765694 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.2814T>C (p.Asn938=) single nucleotide variant Fraser syndrome 3 [RCV001112802] Chr12:66371892 [GRCh38]
Chr12:66765672 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.730G>A (p.Val244Met) single nucleotide variant Fraser syndrome 3 [RCV001112879] Chr12:66465417 [GRCh38]
Chr12:66859197 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*611T>C single nucleotide variant Fraser syndrome 3 [RCV001110038] Chr12:66348408 [GRCh38]
Chr12:66742188 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*228C>A single nucleotide variant Fraser syndrome 3 [RCV001110039] Chr12:66348791 [GRCh38]
Chr12:66742571 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.92A>G (p.Lys31Arg) single nucleotide variant Fraser syndrome 3 [RCV001110213] Chr12:66596891 [GRCh38]
Chr12:66990671 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1511G>A single nucleotide variant Fraser syndrome 3 [RCV001110730] Chr12:66347508 [GRCh38]
Chr12:66741288 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*93A>G single nucleotide variant Fraser syndrome 3 [RCV001110813] Chr12:66348926 [GRCh38]
Chr12:66742706 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.3304T>A (p.Trp1102Arg) single nucleotide variant Fraser syndrome 3 [RCV001110816] Chr12:66349102 [GRCh38]
Chr12:66742882 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.3223G>A (p.Gly1075Arg) single nucleotide variant Fraser syndrome 3 [RCV001110817] Chr12:66349183 [GRCh38]
Chr12:66742963 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.3222C>T (p.Ser1074=) single nucleotide variant Fraser syndrome 3 [RCV001110818] Chr12:66349184 [GRCh38]
Chr12:66742964 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1471G>A (p.Val491Met) single nucleotide variant Fraser syndrome 3 [RCV001110880] Chr12:66445392 [GRCh38]
Chr12:66839172 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1381T>A (p.Leu461Met) single nucleotide variant Fraser syndrome 3 [RCV001110882] Chr12:66445482 [GRCh38]
Chr12:66839262 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1269G>A (p.Gly423=) single nucleotide variant Fraser syndrome 3 [RCV001110883] Chr12:66455494 [GRCh38]
Chr12:66849274 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1216G>T single nucleotide variant Fraser syndrome 3 [RCV001112717] Chr12:66347803 [GRCh38]
Chr12:66741583 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1019C>T single nucleotide variant Fraser syndrome 3 [RCV001112719] Chr12:66348000 [GRCh38]
Chr12:66741780 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.2849G>A (p.Arg950Gln) single nucleotide variant Fraser syndrome 3 [RCV001112801] Chr12:66371857 [GRCh38]
Chr12:66765637 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*832G>C single nucleotide variant Fraser syndrome 3 [RCV001114072] Chr12:66348187 [GRCh38]
Chr12:66741967 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.2423C>T (p.Ser808Leu) single nucleotide variant Fraser syndrome 3 [RCV001198110] Chr12:66392349 [GRCh38]
Chr12:66786129 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.*1149A>G single nucleotide variant Fraser syndrome 3 [RCV001112718] Chr12:66347870 [GRCh38]
Chr12:66741650 [GRCh37]
Chr12:12q14.3
uncertain significance
NM_001366722.1(GRIP1):c.1930C>T (p.Gln644Ter) single nucleotide variant Fraser syndrome 3 [RCV001251009] Chr12:66406337 [GRCh38]
Chr12:66800117 [GRCh37]
Chr12:12q14.3
pathogenic
GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1 copy number loss not provided [RCV001537907] Chr12:65251705..75263379 [GRCh37]
Chr12:12q14.3-21.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18708 AgrOrtholog
COSMIC GRIP1 COSMIC
Ensembl Genes ENSG00000155974 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000352780 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381098 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000438500 UniProtKB/TrEMBL
  ENSP00000438921 UniProtKB/TrEMBL
  ENSP00000439053 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000439124 UniProtKB/TrEMBL
  ENSP00000440918 UniProtKB/TrEMBL
  ENSP00000443006 UniProtKB/TrEMBL
  ENSP00000443392 UniProtKB/TrEMBL
  ENSP00000443860 UniProtKB/TrEMBL
  ENSP00000446011 UniProtKB/TrEMBL
  ENSP00000446024 UniProtKB/TrEMBL
  ENSP00000446047 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000446067 UniProtKB/TrEMBL
  ENSP00000495444 UniProtKB/TrEMBL
Ensembl Transcript ENST00000359742 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398016 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000535002 UniProtKB/TrEMBL
  ENST00000536215 UniProtKB/TrEMBL
  ENST00000538164 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000538211 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000538373 UniProtKB/TrEMBL
  ENST00000539540 UniProtKB/TrEMBL
  ENST00000540433 UniProtKB/TrEMBL
  ENST00000540854 UniProtKB/TrEMBL
  ENST00000541947 UniProtKB/TrEMBL
  ENST00000542309 UniProtKB/TrEMBL
  ENST00000543172 UniProtKB/TrEMBL
  ENST00000545666 UniProtKB/TrEMBL
  ENST00000643019 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155974 GTEx
HGNC ID HGNC:18708 ENTREZGENE
Human Proteome Map GRIP1 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/TrEMBL
  Galectin-like UniProtKB/TrEMBL
  Galectin_12 UniProtKB/TrEMBL
  Galectin_CRD UniProtKB/TrEMBL
  GRIP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRIP1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23426 UniProtKB/Swiss-Prot
NCBI Gene 23426 ENTREZGENE
OMIM 604597 OMIM
  617667 OMIM
PANTHER PTHR11346 UniProtKB/TrEMBL
  PTHR11346:SF111 UniProtKB/TrEMBL
  PTHR46227 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46227:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gal-bind_lectin UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38652 PharmGKB
PROSITE GALECTIN UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Gal-bind_lectin UniProtKB/TrEMBL
  GLECT UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49899 UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y6S7_HUMAN UniProtKB/TrEMBL
  F5H3F9_HUMAN UniProtKB/TrEMBL
  F5H3G9_HUMAN UniProtKB/TrEMBL
  F5H424_HUMAN UniProtKB/TrEMBL
  F5H4M4_HUMAN UniProtKB/TrEMBL
  F5H4N6_HUMAN UniProtKB/TrEMBL
  F5H4P8_HUMAN UniProtKB/TrEMBL
  F5H4Q7_HUMAN UniProtKB/TrEMBL
  F5H5I0_HUMAN UniProtKB/TrEMBL
  GRIP1_HUMAN UniProtKB/Swiss-Prot
  H0YFK8_HUMAN UniProtKB/TrEMBL
  H0YFY3_HUMAN UniProtKB/TrEMBL
  H0YGF1_HUMAN UniProtKB/TrEMBL
  H0YGM4_HUMAN UniProtKB/TrEMBL
  Q9NZ03_HUMAN UniProtKB/TrEMBL
  Q9Y3R0 ENTREZGENE
UniProt Secondary C9JT59 UniProtKB/Swiss-Prot
  Q1RLM0 UniProtKB/Swiss-Prot