RGD:13794522 Rat Genome Database

Variant: RGD:13794522 - Homo sapiens

RGD ID:

13794522

RS ID:

rs758131044

ClinVar ID:

CV552079

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DOK7 LOC105374355

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	3,478,218
GRCh38	4	3,476,491

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000004.12:g.3476491G>A NC_000004.11:g.3478218G>A NG_013072.2:g.18186G>A NP_775931.3:p.Gly161Arg More...	03/15/2019	intron variant	pathogenic\|likely pathogenic\|uncertain significance	Congenital myasthenic syndrome 10; Fetal akinesia sequence; Lethal Pena-Shokeir 1 syndrome; Myasthenia, limb-girdle, familial; none provided; Pena Shokeir syndrome, type 1; Pena-Shokeir syndrome type I

Disease Annotations Click to see Annotation Detail View

congenital myasthenic syndrome 10 (IAGP)

fetal akinesia deformation sequence syndrome 1 (IAGP)

fetal akinesia deformation sequence syndrome 3 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Fetal akinesia sequence (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	LOC105374355
Accession:	XM_047416482
Location:	3UTRS;EXON

Gene Symbol:	DOK7
Accession:	NM_001301071
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY RAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPK PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP HAGPPPAFFSACPVCGGLKGAAASAPGPATAHSGSPGPVAVDSPGPERPRGESPTYVNIPVSPSSRKQLHYMGLELQEAS EGVRGAGASLYAQIDIMATETAHRVGVRHARAREEQLSELEQRKAAPQ*

Gene Symbol:	DOK7
Accession:	XM_047450078
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	26

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSSSWPGTSPRLSRGSGSCLTSGATGPCQADSSLKAGPGAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPD PSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEG PRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAA GAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEA PQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKGAAASAPGPATAHSVRPHAPSCFHPHPSPPNLGSKLGRT DAILKRGTRLQGGVQPHRGQAPALPLGFKAPFPDARPRRSLSSPQALTPPASPTTPSWPSPSAMPPPLGSWPCWPCPCWP RCLPGHQNLAAMFCGSSR*

Gene Symbol:	DOK7
Accession:	NM_001164673
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY RAVPSGFIFEGGTRGWRLLPVLGRGGADQLPVRLHRPRHLPHQGPLWAAAGSTRPKSPGTLDCGGACGPGSPGNPTAGEA AEPPLTCGQAGQWRG*

Gene Symbol:	DOK7
Accession:	NM_173660
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY RAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPK PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP HAGPPPAFFSACPVCGGLKVNPPP*

Gene Symbol:	DOK7
Accession:	XM_011513435
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY RAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPK PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP HAGPPPAFFSACPVCGGLKGAAASAPGPATAHSVRPHAPSCFHPHPSPPNLGSKLGRTDAILKRGTRLQGGVQPHRGQAP ALPLGFKAPFPDARPRRSLSSPQALTPPASPTTPSWPSPSAMPPPLGSWPCWPCPCWPRCLPGHQNLAAMFCGSSR*

Gene Symbol:	LOC105374355
Accession:	XR_007057994
Location:	EXON;NON-CODING

Gene Symbol:	DOK7
Accession:	NM_001363811
Location:	INTRON

Gene Symbol:	DOK7
Accession:	XM_047450079
Location:	INTRON

Gene Symbol:	DOK7
Accession:	NM_001256896
Location:	INTRON

Gene Symbol:	DOK7
Accession:	XM_047450080
Location:	INTRON

Gene Symbol:	DOK7
Accession:	XM_047450081
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:22661499	PMID:25326635	PMID:25741868	PMID:28492532	PMID:33146414

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000679964	CLINVAR
	RCV000797959	CLINVAR
	RCV001784303	CLINVAR
	RCV003459654	CLINVAR
dbSNP (RS)	rs758131044	CLINVAR
MedGen	C1276035	CLINVAR
	C1850792	CLINVAR
	C3661900	CLINVAR
	C4760599	CLINVAR
NCBI Gene	DOK7	CLINVAR
OMIM	208150	CLINVAR
	254300	CLINVAR
	610285	CLINVAR
	618389	CLINVAR
SNOMED CT	401138005	CLINVAR

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)

Variant: RGD:13794522 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13794522 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar