RGD:14728735 Rat Genome Database

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Variant: RGD:14728735 -  Homo sapiens

RGD ID: 14728735
RS ID: rs759691572
ClinVar ID: CV632176
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOK7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 3,494,635
GRCh38 4 3,492,908
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256896.2:c.-9G>A
NM_001164673.2:c.*143G>A
NM_001363811.2:c.490G>A
NM_001301071.2:c.922G>A
More... 		10/10/2018 3 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:NM_001164673
Location:3UTRS;EXON

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

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

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

Gene Symbol:DOK7
Accession:XM_047450078
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSSSWPGTSPRLSRGSGSCLTSGATGPCQADSSLKAGPGAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPD
PSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEG
PRPAAAQAAREAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAA
GAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEA
PQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKGAAASAPGPATAHSVRPHAPSCFHPHPSPPNLGSKLGRT
DAILKRGTRLQGGVQPHRGQAPALPLGFKAPFPDARPRRSLSSPQALTPPASPTTPSWPSPSAMPPPLGSWPCWPCPCWP
RCLPGHQNLAAMFCGSSR*

Gene Symbol:DOK7
Accession:NM_173660
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI
VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY
GAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAREAMVGASRPPPK
PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS
LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
HAGPPPAFFSACPVCGGLKVNPPP*

Gene Symbol:DOK7
Accession:XM_011513435
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI
VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY
GAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAREAMVGASRPPPK
PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS
LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
HAGPPPAFFSACPVCGGLKGAAASAPGPATAHSVRPHAPSCFHPHPSPPNLGSKLGRTDAILKRGTRLQGGVQPHRGQAP
ALPLGFKAPFPDARPRRSLSSPQALTPPASPTTPSWPSPSAMPPPLGSWPCWPCPCWPRCLPGHQNLAAMFCGSSR*

Gene Symbol:DOK7
Accession:XM_047450079
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSQQPGGRKCGHMAAFLGCDPSSRWHSSLLLWPWSPEGTLLDVSGVSWLLHLPSRRLWGQGRWDLGAEEGLIKCLLGG
RAATSPHPPKQARKAGAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLE
KRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAREAMVGASRPPPKPL
RPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLR
AHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHA
GPPPAFFSACPVCGGLKVNPPP*

Gene Symbol:DOK7
Accession:NM_001363811
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVAGAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGP
STVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAA
QAAREAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPS
LCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEA
TLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKGAAASAPGPATAHSGSPGPVAVDSPGPERPRGESPTYVNIPVSPS
SRKQLHYMGLELQEASEGVRGAGASLYAQIDIMATETAHRVGVRHARAREEQLSELEQRKAAPQ*

Gene Symbol:DOK7
Accession:NM_001301071
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI
VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY
GAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAREAMVGASRPPPK
PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS
LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
HAGPPPAFFSACPVCGGLKGAAASAPGPATAHSGSPGPVAVDSPGPERPRGESPTYVNIPVSPSSRKQLHYMGLELQEAS
EGVRGAGASLYAQIDIMATETAHRVGVRHARAREEQLSELEQRKAAPQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000800181 CLINVAR
  RCV002534630 CLINVAR
dbSNP (RS) rs759691572 CLINVAR
MedGen C0950123 CLINVAR
  C1276035 CLINVAR
NCBI Gene DOK7 CLINVAR
OMIM 208150 CLINVAR
  254300 CLINVAR
  610285 CLINVAR
SNOMED CT 401138005 CLINVAR