 Gene-Chemical Interaction Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology Annotations |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
Save List to My RGD
| Create Name: | |
| Description: |
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
{{ watchLinkText }}
Select categories you would like to watch. Updates to this gene will be send to {{ username }}
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsDisease AnnotationsGene-Chemical Interaction Annotations
|
|
|
Gene Ontology AnnotationsReferences - curated| 1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 2. | RGD automated import pipeline for gene-chemical interactions |
| 3. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 1708201 2326268 3474619 11846061 12477932 21964070 23555966 24366849 24777548 25416956 26683098 30182381 |
Genomics
Comparative Map Data| CDR1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cdr1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cdr1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cdr1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CDR1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CDR1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cdr1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CDR1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CDR1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cdr1 (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| STS-M16965 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| SHGC-32493 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| CDR1 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| WI-18961 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| UniSTS:488077 |
|
|||||||||||||||||||||||||||||||||||||||||||||
| UniSTS:480705 |
|
miRNA Target Status
Predicted Target Of
| 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 ExpressionHigh: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM
| uterine cervix | peripheral nervous system | zone of skin | lymph node | large intestine | blood | breast | mucosa | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | pleura | ovary | uterus | adipose tissue | esophagus | saliva-secreting gland | rectum | skeletal muscle tissue | smooth muscle tissue | caecum | vermiform appendix | colon | renal pelvis | cortex of kidney | urinary bladder | pancreas | muscle of leg | muscle of arm | tongue | skeletal muscle of trunk | placenta | cerebellum | thyroid gland | lung | spleen | liver | small intestine | gall bladder | kidney | duodenum | spinal cord | prostate gland | adrenal gland | thymus | hematopoietic system | cartilage tissue | bone tissue | mouth mucosa | fallopian tube | left kidney | frontal lobe | left renal pelvis | right renal pelvis | |
| High | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 3 | 7 | 21 | 2 | 3 | 1 | 2 | 1 | 9 | ||||||||||||||||||||||||||||||||||||||||||||||||
| Low | 2 | 67 | 1 | 11 | 24 | 88 | 1 | 24 | 1 | 35 | 1 | 1 | 72 | 8 | 2 | 2 | 1 | 9 | 2 | 1 | 1 | 1 | 18 | 67 | 15 | 1 | 90 | 1 | 3 | 1 | 2 | 2 | 10 | 1 | 1 | 1 | |||||||||||||||||||||
| Below cutoff | 12 | 2 | 154 | 1 | 29 | 65 | 17 | 1 | 2 | 8 | 1 | 19 | 1 | 35 | 18 | 3 | 1 | 1 | 3 | 1 | 1 | 1 | 5 | 1 | 1 | 14 | 16 | 1 | 1 | 1 | 26 | 76 | 1 | 61 | 1 | 73 | 1 | 18 | 1 | 1 | 6 | 8 | 28 | 1 | 1 |
View RNA-SEQ Expression Data
Sequence
Nucleotide Sequences| RefSeq Transcripts | NG_016361 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_004065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AL078639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC113472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC113474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| H98878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| M16965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| M31423 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| N79390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | ENST00000370532 ⟹ ENSP00000359563 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
|
| RefSeq Acc Id: | NM_004065 ⟹ NP_004056 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
|
||||||||||||||||||||||||||||||||||
| Sequence: |
TTGTTGGAAGACATGAAGATGCTGGAAGACACAGAGATGCTGGAAGACGTGGAGATGTTGGAAGhide sequence |
Protein Sequences| Protein RefSeqs | NP_004056 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | AAA51962 | (Get FASTA) | NCBI Sequence Viewer |
| AAA52472 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI13473 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI13475 | (Get FASTA) | NCBI Sequence Viewer | |
| P51861 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_004056 ⟸ NM_004065 |
| - UniProtKB: | P51861 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAWLEDVDFLEDVPLLEDIPLLEDVPLLEDVPLLEDTSRLEDINLMEDMALLEDVDLLEDTDFLhide sequence |
| RefSeq Acc Id: | ENSP00000359563 ⟸ ENST00000370532 |
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 | copy number gain | See cases [RCV000133911] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 | copy number gain | Ventricular septal defect [RCV000050889]|See cases [RCV000050889] | ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050810]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050810]|See cases [RCV000050810] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050811]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050811]|See cases [RCV000050811] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | Coarse facial features [RCV000050699]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050700]|See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050697]|Postaxial polydactyly A5 [RCV000050698]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050697]|See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 | copy number loss | Global developmental delay [RCV000051160]|See cases [RCV000051160] | ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 | copy number loss | Global developmental delay [RCV000051665]|See cases [RCV000051665] | ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 | copy number loss | Global developmental delay [RCV000051666]|See cases [RCV000051666] | ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 | copy number loss | Specific learning disability [RCV000051728]|See cases [RCV000051728] | ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051729]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051729]|See cases [RCV000051729] | ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 | copy number loss | Global developmental delay [RCV000051713]|See cases [RCV000051713] | ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 | copy number loss | Nonsyndromic microcephaly [RCV000051732]|See cases [RCV000051732] | ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051733]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051733]|See cases [RCV000051733] | ChrX:139230333..150628474 [GRCh38] ChrX:138312495..149782550 [GRCh37] ChrX:138140161..149547605 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1(chrX:139333024-140959375)x0 | copy number loss | Global developmental delay [RCV000051734]|See cases [RCV000051734] | ChrX:139333024..140959375 [GRCh38] ChrX:138415183..139986362 [GRCh37] ChrX:138242849..139869206 [NCBI36] ChrX:Xq27.1 |
pathogenic |
| GRCh38/hg38 Xq27.1-27.2(chrX:139928002-141840850)x0 | copy number loss | Autism [RCV000051744]|See cases [RCV000051744] | ChrX:139928002..141840850 [GRCh38] ChrX:139010161..140928636 [GRCh37] ChrX:138837827..140756302 [NCBI36] ChrX:Xq27.1-27.2 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140422829-148166315)x0 | copy number loss | Abnormal facial shape [RCV000051745]|See cases [RCV000051745] | ChrX:140422829..148166315 [GRCh38] ChrX:139504994..147005548 [GRCh37] ChrX:139332660..147055527 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] | ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] | ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 | copy number gain | Hypertelorism [RCV000052324]|See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052359]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052359]|See cases [RCV000052359] | ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052325]|See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 | copy number gain | Obesity [RCV000052322]|See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 | copy number gain | Global developmental delay [RCV000052445]|See cases [RCV000052445] | ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052471]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052471]|See cases [RCV000052471] | ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052474]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052474]|See cases [RCV000052474] | ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_004065.2(CDR1):c.209C>T (p.Ser70Leu) | single nucleotide variant | Malignant melanoma [RCV000073094] | ChrX:140784158 [GRCh38] ChrX:139866323 [GRCh37] ChrX:139693989 [NCBI36] ChrX:Xq27.1 |
not provided |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 | copy number gain | See cases [RCV000133654] | ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 | copy number loss | See cases [RCV000133818] | ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 | copy number loss | See cases [RCV000133792] | ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 | copy number gain | See cases [RCV000133744] | ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 | copy number gain | See cases [RCV000134564] | ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 | copy number loss | See cases [RCV000134570] | ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq27.1(chrX:140526750-140959316)x3 | copy number gain | See cases [RCV000134577] | ChrX:140526750..140959316 [GRCh38] ChrX:139608915..140041481 [GRCh37] ChrX:139436581..139869147 [NCBI36] ChrX:Xq27.1 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 | copy number loss | See cases [RCV000133947] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 | copy number gain | See cases [RCV000134025] | ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 | copy number loss | See cases [RCV000135300] | ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 | copy number loss | See cases [RCV000135321] | ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 | copy number loss | See cases [RCV000135307] | ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 | copy number loss | See cases [RCV000134958] | ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 | copy number loss | See cases [RCV000134947] | ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 | copy number loss | See cases [RCV000135552] | ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 | copy number loss | See cases [RCV000135454] | ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 | copy number gain | See cases [RCV000136552] | ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 | copy number loss | See cases [RCV000136097] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 | copy number gain | See cases [RCV000136030] | ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 | copy number loss | See cases [RCV000136005] | ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 | copy number loss | See cases [RCV000136095] | ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 | copy number gain | See cases [RCV000135881] | ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 | copy number loss | See cases [RCV000136083] | ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 | copy number loss | See cases [RCV000137113] | ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 | copy number gain | See cases [RCV000136841] | ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 | copy number gain | See cases [RCV000136791] | ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 | copy number gain | See cases [RCV000137553] | ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 | copy number loss | See cases [RCV000137415] | ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 | copy number loss | See cases [RCV000137257] | ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 | copy number loss | See cases [RCV000137167] | ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 | copy number loss | See cases [RCV000137138] | ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 | copy number gain | See cases [RCV000138020] | ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 | copy number loss | See cases [RCV000137887] | ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 | copy number loss | See cases [RCV000138678] | ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 | copy number loss | See cases [RCV000138787] | ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 | copy number loss | See cases [RCV000138541] | ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 | copy number loss | See cases [RCV000139351] | ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 | copy number loss | See cases [RCV000139400] | ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 | copy number gain | See cases [RCV000139416] | ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 | copy number gain | See cases [RCV000139888] | ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 | copy number loss | See cases [RCV000139724] | ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 | copy number gain | See cases [RCV000141400] | ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 | copy number gain | See cases [RCV000141401] | ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 | copy number gain | See cases [RCV000140786] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 | copy number loss | See cases [RCV000140787] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 | copy number loss | See cases [RCV000141825] | ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 | copy number loss | See cases [RCV000142016] | ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 | copy number loss | See cases [RCV000141743] | ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 | copy number loss | See cases [RCV000142337] | ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 | copy number loss | See cases [RCV000142137] | ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28 |
pathogenic |
| GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 | copy number loss | See cases [RCV000142037] | ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28 |
pathogenic |
| GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 | copy number loss | See cases [RCV000142190] | ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28 |
pathogenic |
| GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 | copy number loss | See cases [RCV000142577] | ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 | copy number gain | See cases [RCV000142625] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 | copy number loss | See cases [RCV000143349] | ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 | copy number loss | See cases [RCV000143441] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 | copy number gain | See cases [RCV000143433] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 | copy number loss | See cases [RCV000143424] | ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 | copy number loss | See cases [RCV000143132] | ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 | copy number gain | See cases [RCV000143219] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000148135] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000148141] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:138125974-147236414)x2 | copy number gain | See cases [RCV000167566] | ChrX:138125974..147236414 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 | copy number gain | See cases [RCV000240143] | ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 | copy number gain | See cases [RCV000240314] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 | copy number gain | See cases [RCV000240464] | ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 | copy number gain | See cases [RCV000240148] | ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 | copy number loss | See cases [RCV000240337] | ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 | copy number gain | See cases [RCV000240541] | ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 | copy number loss | See cases [RCV000449365] | ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 | copy number gain | See cases [RCV000449437] | ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 | copy number gain | See cases [RCV000446471] | ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 | copy number loss | See cases [RCV000447490] | ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 | copy number gain | See cases [RCV000446151] | ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 | copy number gain | See cases [RCV000446310] | ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 | copy number loss | See cases [RCV000445891] | ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | See cases [RCV000448393] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 | copy number loss | See cases [RCV000448724] | ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 | copy number gain | See cases [RCV000448034] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 | copy number loss | See cases [RCV000448652] | ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 | copy number loss | See cases [RCV000448865] | ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
| GRCh37/hg19 Xq27.1(chrX:139091555-140159954)x3 | copy number gain | See cases [RCV000447743] | ChrX:139091555..140159954 [GRCh37] ChrX:Xq27.1 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 | copy number loss | See cases [RCV000448870] | ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 | copy number gain | See cases [RCV000511787] | ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 | copy number loss | See cases [RCV000511413] | ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic |
| GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 | copy number loss | See cases [RCV000511572] | ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 | copy number loss | See cases [RCV000511936] | ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 | copy number loss | See cases [RCV000511482] | ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-27.2(chrX:138768091-140805967)x3 | copy number gain | See cases [RCV000511988] | ChrX:138768091..140805967 [GRCh37] ChrX:Xq27.1-27.2 |
likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 | copy number loss | See cases [RCV000511490] | ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 | copy number gain | See cases [RCV000510826] | ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 | copy number gain | See cases [RCV000511307] | ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 | copy number loss | See cases [RCV000510820] | ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 | copy number gain | See cases [RCV000511034] | ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
| Single allele | duplication | MECP2 duplication syndrome [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 | copy number gain | See cases [RCV000512365] | ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28 |
uncertain significance |
| GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 | copy number loss | See cases [RCV000512372] | ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 | copy number gain | See cases [RCV000512173] | ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 | copy number loss | not provided [RCV000684386] | ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 | copy number loss | not provided [RCV000684397] | ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 | copy number loss | not provided [RCV000684401] | ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 | copy number loss | not provided [RCV000684357] | ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 | copy number loss | not provided [RCV000684373] | ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
| GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 | copy number loss | not provided [RCV000684363] | ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28 |
pathogenic |
| GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 | copy number gain | not provided [RCV000684377] | ChrX:117998704..140159954 [GRCh37] ChrX:Xq24-27.1 |
pathogenic |
| GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 | copy number loss | not provided [RCV000846958] | ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 | copy number loss | not provided [RCV000753810] | ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 | copy number loss | not provided [RCV000753815] | ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 | copy number loss | not provided [RCV000753606] | ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 | copy number loss | not provided [RCV000753271] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 | copy number gain | not provided [RCV000753272] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| Single allele | duplication | Autistic disorder of childhood onset [RCV000754365] | ChrX:1..156040895 [GRCh38] | pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 | copy number loss | not provided [RCV000753556] | ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 | copy number loss | Premature ovarian insufficiency [RCV000852349] | ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28 |
likely pathogenic |
| NM_004065.2(CDR1):c.670C>T (p.Arg224Cys) | single nucleotide variant | not provided [RCV000972100] | ChrX:140783697 [GRCh38] ChrX:139865862 [GRCh37] ChrX:Xq27.1 |
benign |
| GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) | copy number gain | not provided [RCV000767679] | ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 | copy number loss | not provided [RCV000846274] | ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2 | copy number gain | not provided [RCV000849149] | ChrX:138120235..147240344 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 | copy number loss | not provided [RCV000848218] | ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
| GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 | copy number loss | not provided [RCV000845672] | ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28 |
pathogenic |
| GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 | copy number loss | not provided [RCV000847838] | ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28 |
pathogenic |
| GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2 | copy number gain | not provided [RCV000846424] | ChrX:139513270..149234353 [GRCh37] ChrX:Xq27.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 | copy number loss | not provided [RCV000849097] | ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:1798 | AgrOrtholog |
| COSMIC | CDR1 | COSMIC |
| Ensembl Genes | ENSG00000184258 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000359563 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENST00000370532 | ENTREZGENE, UniProtKB/Swiss-Prot |
| GTEx | ENSG00000184258 | GTEx |
| HGNC ID | HGNC:1798 | ENTREZGENE |
| Human Proteome Map | CDR1 | Human Proteome Map |
| KEGG Report | hsa:1038 | UniProtKB/Swiss-Prot |
| NCBI Gene | 1038 | ENTREZGENE |
| OMIM | 302650 | OMIM |
| PharmGKB | PA26330 | PharmGKB |
| UniGene | Hs.446675 | ENTREZGENE |
| UniProt | CDR1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
| UniProt Secondary | Q5JXH6 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-11-17 | CDR1 | cerebellar degeneration related protein 1 | cerebellar degeneration-related protein 1, 34kDa | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on CDR1 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1345930 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-12-25 |
| Status: | ACTIVE |
