RGD:156079156 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:156079156 -  Homo sapiens

RGD ID: 156079156
ClinVar ID: CV2230408
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MDK  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 46,403,864
GRCh38 11 46,382,314
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002391.6:c.97C>G
NG_047092.1:g.54410C>G
NM_001270552.3:c.76+181C>G
NM_001012333.3:c.97C>G
More... 		08/12/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MDK
Accession:NM_001012334
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQHRGFLLLTLLALLALTSAVAKKKDKVKKGGAGSECAEWAWGPCTPSSKDCGVGFREGTCGAQTQRIRCRVPCNWKKEF
GADCKYKFENWGACDGGTGTKVRQGTLKKARYNAQCQETIRVTKPCTPKTKAKAKAKKGKGKD*

Gene Symbol:MDK
Accession:NM_002391
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQHRGFLLLTLLALLALTSAVAKKKDKVKKGGAGSECAEWAWGPCTPSSKDCGVGFREGTCGAQTQRIRCRVPCNWKKEF
GADCKYKFENWGACDGGTGTKVRQGTLKKARYNAQCQETIRVTKPCTPKTKAKAKAKKGKGKD*

Gene Symbol:MDK
Accession:NM_001012333
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQHRGFLLLTLLALLALTSAVAKKKDKVKKGGAGSECAEWAWGPCTPSSKDCGVGFREGTCGAQTQRIRCRVPCNWKKEF
GADCKYKFENWGACDGGTGTKVRQGTLKKARYNAQCQETIRVTKPCTPKTKAKAKAKKGKGKD*

Gene Symbol:MDK
Accession:NM_001270550
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQHRGFLLLTLLALLALTSAVAKKKDKVKKGGAGSECAEWAWGPCTPSSKDCGVGFREGTCGAQTQRIRCRVPCNWKKEF
GADCKYKFENWGACDGGTGTKVRQGTLKKARYNAQCQETIRVTKPCTPKTKAKAKAKKGKGKD*

Gene Symbol:MDK
Accession:NM_001270551
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQHRGFLLLTLLALLALTSAVAKKKDKVKKGGAGSECAEWAWGPCTPSSKDCGVGFREGTCGAQTQRIRCRVPCNWKKEF
GADCKYKFENWGACDGGTGTKVRQGTLKKARYNAQCQETIRVTKPCTPKTKAKAKAKKGKGKD*

Gene Symbol:MDK
Accession:NR_073039
Location:EXON;NON-CODING

Gene Symbol:MDK
Accession:NM_001270552
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004101785 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MDK CLINVAR
OMIM 162096 CLINVAR