RGD:329360189 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:329360189 -  Homo sapiens

RGD ID: 329360189
ClinVar ID: CV2458609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCTD20  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 36,452,506
GRCh38 6 36,484,729
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286580.2:c.437A>G
NM_173562.5:c.872A>G
NR_104480.2:n.635A>G
NP_001273508.1:p.Lys125Arg
More... 		02/07/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KCTD20
Accession:XM_047418378
Location:3UTRS;EXON

Gene Symbol:KCTD20
Accession:XM_005248940
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVHRGSDSDRLLRQEASCLVDDTLAVAQEKEANSLASSGPHNLTYPLGPRNEDLSLDYASQPANLQFPHIMPLAEDIKG
SCFQSGNKRNHEPFIAPERFGNSSVGFGSNSHSQAPEKVTLLVDGTRFVVNPQIFTAHPDTMLGRMFGPGREYNFTRPNE
KGEYEIAEGISATVFRTVLDYYKTGIINCPDGISIPDLRDTCDYLCINFDFNTIRCQDLSALLHELSNDGAHKQFDHYLE
ELILPIMVGCAKKGERECHIVVLTDEDSVDWDEDHPPPMGEEYSQILYSSRLYRFFKYIENRDVAKTVLKERGLKNIRIG
IEGYPTCKEKIKRRPGGRSEVIYNYVQRPFIQMSWEKEEGKSRHVDFQCVRSKSLTNLVAAGDDVLEDQEILMHHPPQVD
ELDRLNAPLSQMASNDFQD*

Gene Symbol:KCTD20
Accession:NM_001286580
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGPGREYNFTRPNEKGEYEIAEGISATVFRTVLDYYKTGIINCPDGISIPDLRDTCDYLCINFDFNTIRCQDLSALLHE
LSNDGAHKQFDHYLEELILPIMVGCAKKGERECHIVVLTDEDSVDWDEDHPPPMGEEYSQILYSSRLYRFFKYIENRDVA
KTVLKERGLKNIRIGIEGYPTCKEKIKRRPGGRSEVIYNYVQRPFIQMSWEKEEGKSRHVDFQCVRSKSLTNLVAAGDDV
LEDQEILMHHPPQVDELDRLNAPLSQMASNDFQD*

Gene Symbol:KCTD20
Accession:XM_047418380
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKDYYKTGIINCPDGISIPDLRDTCDYLCINFDFNTIRCQDLSALLHELSNDGAHKQFDHYLEELILPIMVGCAKKGERE
CHIVVLTDEDSVDWDEDHPPPMGEEYSQILYSSRLYRFFKYIENRDVAKTVLKERGLKNIRIGIEGYPTCKEKIKRRPGG
RSEVIYNYVQRPFIQMSWEKEEGKSRHVDFQCVRSKSLTNLVAAGDDVLEDQEILMHHPPQVDELDRLNAPLSQMASNDF
QD*

Gene Symbol:KCTD20
Accession:XM_047418377
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVHRGSDSDRLLRQEASCLVDDTLAVAQEKEANSLASSGPHNLTYPLGPRNEDLSLDYASQPANLQFPHIMPLAEDIKG
SCFQSGNKRNHEPFIAPERFGNSSVGFGSNSHSQAPEKVTLLVDGTRFVVNPQIFTAHPDTMLGRMFGPGREYNFTRPNE
KGEYEIAEGISATVFRTVLDYYKTGIINCPDGISIPDLRDTCDYLCINFDFNTIRCQDLSALLHELSNDGAHKQFDHYLE
ELILPIMVGCAKKGERECHIVVLTDEDSVDWDEDHPPPMGEEYSQILYSSRLYRFFKYIENRDVAKTVLKERGLKNIRIG
IEGYPTCKEKIKRRPGGRSEVIYNYVQRPFIQMSWEKEEGKSRHVDFQCVRSKSLTNLVAAGDDVLEDQEILMHHPPQVD
ELDRLNAPLSQMASNDFQD*

Gene Symbol:KCTD20
Accession:XM_047418381
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKDYYKTGIINCPDGISIPDLRDTCDYLCINFDFNTIRCQDLSALLHELSNDGAHKQFDHYLEELILPIMVGCAKKGERE
CHIVVLTDEDSVDWDEDHPPPMGEEYSQILYSSRLYRFFKYIENRDVAKTVLKERGLKNIRIGIEGYPTCKEKIKRRPGG
RSEVIYNYVQRPFIQMSWEKEEGKSRHVDFQCVRSKSLTNLVAAGDDVLEDQEILMHHPPQVDELDRLNAPLSQMASNDF
QD*

Gene Symbol:KCTD20
Accession:XM_047418379
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKDYYKTGIINCPDGISIPDLRDTCDYLCINFDFNTIRCQDLSALLHELSNDGAHKQFDHYLEELILPIMVGCAKKGERE
CHIVVLTDEDSVDWDEDHPPPMGEEYSQILYSSRLYRFFKYIENRDVAKTVLKERGLKNIRIGIEGYPTCKEKIKRRPGG
RSEVIYNYVQRPFIQMSWEKEEGKSRHVDFQCVRSKSLTNLVAAGDDVLEDQEILMHHPPQVDELDRLNAPLSQMASNDF
QD*

Gene Symbol:KCTD20
Accession:XM_006715023
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVHRGSDSDRLLRQEASCLVDDTLAVAQEKEANSLASSGPHNLTYPLGPRNEDLSLDYASQPANLQFPHIMPLAEDIKG
SCFQSGNKRNHEPFIAPERFGNSSVGFGSNSHSQAPEKVTLLVDGTRFVVNPQIFTAHPDTMLGRMFGPGREYNFTRPNE
KGEYEIAEGISATVFRTVLDYYKTGIINCPDGISIPDLRDTCDYLCINFDFNTIRCQDLSALLHELSNDGAHKQFDHYLE
ELILPIMVGCAKKGERECHIVVLTDEDSVDWDEDHPPPMGEEYSQILYSSRLYRFFKYIENRDVAKTVLKERGLKNIRIG
IEGYPTCKEKIKRRPGGRSEVIYNYVQRPFIQMSWEKEEGKSRHVDFQCVRSKSLTNLVAAGDDVLEDQEILMHHPPQVD
ELDRLNAPLSQMASNDFQD*

Gene Symbol:KCTD20
Accession:XM_011514398
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVHRGSDSDRLLRQEASCLVDDTLAVAQEKEANSLASSGPHNLTYPLGPRNEDLSLDYASQPANLQFPHIMPLAEDIKG
SCFQSGNKRNHEPFIAPERFGNSSVGFGSNSHSQAPEKVTLLVDGTRFVVNPQIFTAHPDTMLGRMFGPGREYNFTRPNE
KGEYEIAEGISATVFRTVLDYYKTGIINCPDGISIPDLRDTCDYLCINFDFNTIRCQDLSALLHELSNDGAHKQFDHYLE
ELILPIMVGCAKKGERECHIVVLTDEDSVDWDEDHPPPMGEEYSQILYSSRLYRFFKYIENRDVAKTVLKERGLKNIRIG
IEGYPTCKEKIKRRPGGRSEVIYNYVQRPFIQMSWEKEEGKSRHVDFQCVRSKSLTNLVAAGDDVLEDQEILMHHPPQVD
ELDRLNAPLSQMASNDFQD*

Gene Symbol:KCTD20
Accession:NM_001286579
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVHRGSDSDRLLRQEASCLVDDTLAVAQEKEANSLASSGPHNLTYPLGPRNEGALLHELSNDGAHKQFDHYLEELILPI
MVGCAKKGERECHIVVLTDEDSVDWDEDHPPPMGEEYSQILYSSRLYRFFKYIENRDVAKTVLKERGLKNIRIGIEGYPT
CKEKIKRRPGGRSEVIYNYVQRPFIQMSWEKEEGKSRHVDFQCVRSKSLTNLVAAGDDVLEDQEILMHHPPQVDELDRLN
APLSQMASNDFQD*

Gene Symbol:KCTD20
Accession:NM_173562
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNVHRGSDSDRLLRQEASCLVDDTLAVAQEKEANSLASSGPHNLTYPLGPRNEDLSLDYASQPANLQFPHIMPLAEDIKG
SCFQSGNKRNHEPFIAPERFGNSSVGFGSNSHSQAPEKVTLLVDGTRFVVNPQIFTAHPDTMLGRMFGPGREYNFTRPNE
KGEYEIAEGISATVFRTVLDYYKTGIINCPDGISIPDLRDTCDYLCINFDFNTIRCQDLSALLHELSNDGAHKQFDHYLE
ELILPIMVGCAKKGERECHIVVLTDEDSVDWDEDHPPPMGEEYSQILYSSRLYRFFKYIENRDVAKTVLKERGLKNIRIG
IEGYPTCKEKIKRRPGGRSEVIYNYVQRPFIQMSWEKEEGKSRHVDFQCVRSKSLTNLVAAGDDVLEDQEILMHHPPQVD
ELDRLNAPLSQMASNDFQD*

Gene Symbol:KCTD20
Accession:NR_104480
Location:EXON;NON-CODING

Gene Symbol:KCTD20
Accession:NR_104481
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004268283 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCTD20 CLINVAR
OMIM 615932 CLINVAR