RGD:13610855 Rat Genome Database

Variant: RGD:13610855 - Homo sapiens

RGD ID:

13610855

RS ID:

rs747816956

ClinVar ID:

CV519881

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DOK7

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	3,494,627
GRCh38	4	3,492,900

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
NG_013072.2:g.34595A>G NP_775931.3:p.Gln305Arg NM_173660.5:c.914A>G NC_000004.12:g.3492900A>G More...	01/03/2018	3 prime utr variant\|missense 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

fetal akinesia deformation sequence syndrome 1 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Fetal akinesia sequence (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	DOK7
Accession:	NM_001164673
Location:	3UTRS;EXON

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

Gene Symbol:	DOK7
Accession:	XM_047450081
Location:	5UTRS;EXON

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

Gene Symbol:	DOK7
Accession:	NM_173660
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	305

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

Gene Symbol:	DOK7
Accession:	NM_001301071
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	305

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

Gene Symbol:	DOK7
Accession:	XM_047450078
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	167

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

Gene Symbol:	DOK7
Accession:	XM_011513435
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	305

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

Gene Symbol:	DOK7
Accession:	NM_001363811
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVAGAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGP STVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAA RAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPS LCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEA TLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKGAAASAPGPATAHSGSPGPVAVDSPGPERPRGESPTYVNIPVSPS SRKQLHYMGLELQEASEGVRGAGASLYAQIDIMATETAHRVGVRHARAREEQLSELEQRKAAPQ*

Gene Symbol:	DOK7
Accession:	XM_047450079
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	223

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQPSQQPGGRKCGHMAAFLGCDPSSRWHSSLLLWPWSPEGTLLDVSGVSWLLHLPSRRLWGQGRWDLGAEEGLIKCLLGG RAATSPHPPKQARKAGAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLE KRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAARAAGEAMVGASRPPPKPL RPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLR AHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHA GPPPAFFSACPVCGGLKVNPPP*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000641545	CLINVAR
dbSNP (RS)	rs747816956	CLINVAR
MedGen	C1276035	CLINVAR
NCBI Gene	DOK7	CLINVAR
OMIM	208150	CLINVAR
	254300	CLINVAR
	610285	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:13610855 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13610855 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar