RGD:151749724 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:151749724 -  Homo sapiens

RGD ID: 151749724
RS ID: rs1220205278
ClinVar ID: CV1338463
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOK7  LOC126806951  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 3,487,292
GRCh38 4 3,485,565
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_869t1:c.559G>C
NM_001256896.2:c.-372G>C
NM_001363811.2:c.127G>C
NM_001164673.2:c.548G>C
More... 		08/24/2021 5 prime utr variant uncertain significance Congenital myasthenic syndrome 10; Fetal akinesia sequence; Lethal Pena-Shokeir 1 syndrome; Myasthenia, limb-girdle, familial; Pena Shokeir syndrome, type 1; Pena-Shokeir syndrome type I
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DOK7
Accession:XM_047450081
Location:5UTRS;EXON

Gene Symbol:DOK7
Accession:XM_047450080
Location:5UTRS;EXON

Gene Symbol:DOK7
Accession:NM_001256896
Location:5UTRS;EXON

Gene Symbol:DOK7
Accession:NM_173660
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI
VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY
GAVPSGFIFEGGTRCGYWAGVFFLSSPEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPK
PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS
LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
HAGPPPAFFSACPVCGGLKVNPPP*

Gene Symbol:DOK7
Accession:XM_047450078
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSSSWPGTSPRLSRGSGSCLTSGATGPCQADSSLKAGPGAGVFFLSSPEGEQISFLFDCIVRGISPTKGPFGLRPVLPD
PSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEG
PRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAA
GAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEA
PQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKGAAASAPGPATAHSVRPHAPSCFHPHPSPPNLGSKLGRT
DAILKRGTRLQGGVQPHRGQAPALPLGFKAPFPDARPRRSLSSPQALTPPASPTTPSWPSPSAMPPPLGSWPCWPCPCWP
RCLPGHQNLAAMFCGSSR*

Gene Symbol:DOK7
Accession:XM_047450079
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSQQPGGRKCGHMAAFLGCDPSSRWHSSLLLWPWSPEGTLLDVSGVSWLLHLPSRRLWGQGRWDLGAEEGLIKCLLGG
RAATSPHPPKQARKAGAGVFFLSSPEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLE
KRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPL
RPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLR
AHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHA
GPPPAFFSACPVCGGLKVNPPP*

Gene Symbol:DOK7
Accession:NM_001164673
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI
VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY
GAVPSGFIFEGGTRGWRLLPVLARGGADQLPVRLHRPRHLPHQGPLWAAAGSTRPKSPGTLDCGGACGPGSPGNPTAGEA
AEPPLTCGQAGQWRG*

Gene Symbol:DOK7
Accession:NM_001301071
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI
VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY
GAVPSGFIFEGGTRCGYWAGVFFLSSPEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPK
PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS
LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
HAGPPPAFFSACPVCGGLKGAAASAPGPATAHSGSPGPVAVDSPGPERPRGESPTYVNIPVSPSSRKQLHYMGLELQEAS
EGVRGAGASLYAQIDIMATETAHRVGVRHARAREEQLSELEQRKAAPQ*

Gene Symbol:DOK7
Accession:XM_011513435
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI
VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY
GAVPSGFIFEGGTRCGYWAGVFFLSSPEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPK
PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS
LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
HAGPPPAFFSACPVCGGLKGAAASAPGPATAHSVRPHAPSCFHPHPSPPNLGSKLGRTDAILKRGTRLQGGVQPHRGQAP
ALPLGFKAPFPDARPRRSLSSPQALTPPASPTTPSWPSPSAMPPPLGSWPCWPCPCWPRCLPGHQNLAAMFCGSSR*

Gene Symbol:DOK7
Accession:NM_001363811
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVAGAGVFFLSSPEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGP
STVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAA
QAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPS
LCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEA
TLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKGAAASAPGPATAHSGSPGPVAVDSPGPERPRGESPTYVNIPVSPS
SRKQLHYMGLELQEASEGVRGAGASLYAQIDIMATETAHRVGVRHARAREEQLSELEQRKAAPQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001927399 CLINVAR
dbSNP (RS) rs1220205278 CLINVAR
MedGen C1276035 CLINVAR
NCBI Gene DOK7 CLINVAR
  LOC126806951 CLINVAR
OMIM 208150 CLINVAR
  254300 CLINVAR
  610285 CLINVAR
SNOMED CT 401138005 CLINVAR