RGD:13622848 Rat Genome Database

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Variant: RGD:13622848 -  Homo sapiens

RGD ID: 13622848
RS ID: rs76147813
ClinVar ID: CV523632
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF11  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 133,634,908
GRCh38 8 132,622,662
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321963.2:c.503C>A
NM_001321964.2:c.503C>A
NG_033068.1:g.57956C>A
NC_000008.11:g.132622662G>T
More... 		12/31/2019 missense variant benign CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAAF11
Accession:NM_012472
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPHRTLITEDGKALNVNEPKIDFSLKDNEKQIILD
LAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSD
RSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_006716538
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPHRTLITEDGKALNVNEPKIDFSLKDNE
KQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKS
MKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_011516950
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPHRTLITEDGKALNVNEPKYMDTSLIDV
DVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHME
KLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321962
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWRCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDY
SVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDN
SEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPHRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLA
VYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRS
REQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321961
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPHRTLITEDGKALNVNEPKYMDTSLIDVDVQPTY
VRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDP
SKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321966
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPHRTLITEDGKALNVNEPKYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPK
VGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNP
EVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321963
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPHRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
RRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321964
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPHRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
RRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321965
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPHRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
RRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_017013296
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVLPHGHRRRIPSTRKEKAQALASENVSKLKKLEYLNLALNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIH
LKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEE
DKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKK
QEKLSEKKKKVKPHRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVL
PAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQE
KKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_047421660
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPHRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
RRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_047421658
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPHRTLITEDGKALNVNEPKYMDTSLIDV
DVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKGANQLMRKALLSLFMSLKQLQHSFPLFLYVFNLS
KFFT*

Gene Symbol:DNAAF11
Accession:XM_047421656
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPHRTLITEDGKALNVNEPKIDFSLKDNE
KQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKGANQLMRKALLSLF
MSLKQLQHSFPLFLYVFNLSKFFT*

Gene Symbol:DNAAF11
Accession:XM_047421659
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPHRTLITEDGKALNVNEPKYMDTSLIDVDVQPTY
VRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKGANQLMRKALLSLFMSLKQLQHSFPLFLYVFNLSKFFT*

Gene Symbol:DNAAF11
Accession:XM_047421657
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPHRTLITEDGKALNVNEPKIDFSLKDNEKQIILD
LAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKGANQLMRKALLSLFMSLKQL
QHSFPLFLYVFNLSKFFT*

Gene Symbol:DNAAF11
Accession:NR_073525
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135908
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135906
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135907
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135905
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135909
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135910
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135911
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135913
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135912
Location:EXON;NON-CODING

Gene Symbol:DNAAF11
Accession:XR_007060728
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000650328 CLINVAR
  RCV002461969 CLINVAR
dbSNP (RS) rs76147813 CLINVAR
MedGen C0008780 CLINVAR
  C3543826 CLINVAR
NCBI Gene LRRC6 CLINVAR
OMIM 614930 CLINVAR
  614935 CLINVAR