RGD:329370874 Rat Genome Database

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Variant: RGD:329370874 -  Homo sapiens

RGD ID: 329370874
ClinVar ID: CV2461867
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF11  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 133,595,989
GRCh38 8 132,583,742
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321961.2:c.1118A>C
NM_012472.6:c.1178A>C
NM_001321966.2:c.758A>C
NM_001321963.2:c.818A>C
More... 		01/31/2023 missense variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAAF11
Accession:NM_001321966
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPPRTLITEDGKALNVNEPKYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPK
VGEVITGGQRAFTSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNP
EVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321963
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFTSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
RRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_047421660
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFTSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
RRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_011516950
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKYMDTSLIDV
DVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFTSMKTTSDRSREQTNTRSKHME
KLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_012472
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILD
LAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFTSMKTTSD
RSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321962
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWRCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDY
SVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDN
SEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLA
VYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFTSMKTTSDRS
REQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321965
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFTSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
RRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321964
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDK
RSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSE
KKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKP
DSSSAKRSQTTGHLVICMPKVGEVITGGQRAFTSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPR
RRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:NM_001321961
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 373
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKYMDTSLIDVDVQPTY
VRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFTSMKTTSDRSREQTNTRSKHMEKLEVDP
SKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_017013296
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 359
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVLPHGHRRRIPSTRKEKAQALASENVSKLKKLEYLNLALNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIH
LKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEE
DKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKK
QEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVL
PAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFTSMKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQE
KKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_006716538
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNE
KQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFTS
MKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

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

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_135907
Location:EXON;NON-CODING

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

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

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

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

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

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

Gene Symbol:DNAAF11
Accession:XM_047421659
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421658
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421657
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421656
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004271778 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAAF11 CLINVAR
OMIM 614930 CLINVAR