RGD:152984181 Rat Genome Database

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Variant: RGD:152984181 -  Homo sapiens

RGD ID: 152984181
RS ID: rs768257025
ClinVar ID: CV1672950
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF11  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 133,673,737
GRCh38 8 132,661,491
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.-214C>G
NM_001321964.2:c.-214C>G
NM_001321966.2:c.-214C>G
NM_001321965.2:c.-527C>G
More... 		10/10/2021 5 prime utr variant likely 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_001321963
Location:5UTRS;EXON

Gene Symbol:DNAAF11
Accession:NM_001321966
Location:5UTRS;EXON

Gene Symbol:DNAAF11
Accession:NM_001321965
Location:5UTRS;EXON

Gene Symbol:DNAAF11
Accession:NM_001321964
Location:5UTRS;EXON

Gene Symbol:DNAAF11
Accession:XM_011516950
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKYMDTSLIDV
DVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHME
KLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_047421658
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKYMDTSLIDV
DVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKGANQLMRKALLSLFMSLKQLQHSFPLFLYVFNLS
KFFT*

Gene Symbol:DNAAF11
Accession:XM_047421656
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNE
KQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKGANQLMRKALLSLF
MSLKQLQHSFPLFLYVFNLSKFFT*

Gene Symbol:DNAAF11
Accession:NM_012472
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILD
LAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSD
RSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_047421659
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKYMDTSLIDVDVQPTY
VRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKGANQLMRKALLSLFMSLKQLQHSFPLFLYVFNLSKFFT*

Gene Symbol:DNAAF11
Accession:NM_001321961
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKYMDTSLIDVDVQPTY
VRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKSMKTTSDRSREQTNTRSKHMEKLEVDP
SKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_006716538
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVMDETPHVTEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLA
LNNIEKIENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSE
RIKALQDYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEE
HNTKKLDNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNE
KQIILDLAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGGQRAFKS
MKTTSDRSREQTNTRSKHMEKLEVDPSKHSFPDVTNIVQEKKHTPRRRPEPKIIPSEEDPTFEDNPEVPPLI*

Gene Symbol:DNAAF11
Accession:XM_047421657
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGWITEDLIRRNAEHNDCVIFSLEELSLHQQEIERLEHIDKWCRDLKILYLQNNLIGKIENVSKLKKLEYLNLALNNIEK
IENLEGCEELAKLDLTVNFIGELSSIKNLQHNIHLKELFLMGNPCASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQ
DYSVIEPQIREQEKDHCLKRAKLKEEAQRKHQEEDKNEDKRSNAGFDGRWYTDINATLSSLESKDHLQAPDTEEHNTKKL
DNSEDDLEFWNKPCLFTPESRLETLRHMEKQRKKQEKLSEKKKKVKPPRTLITEDGKALNVNEPKIDFSLKDNEKQIILD
LAVYRYMDTSLIDVDVQPTYVRVMIKGKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKGANQLMRKALLSLFMSLKQL
QHSFPLFLYVFNLSKFFT*

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

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

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

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

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

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

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

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

Gene Symbol:DNAAF11
Accession:XM_017013296
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_001321962
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421660
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002238535 CLINVAR
  RCV002463131 CLINVAR
dbSNP (RS) rs768257025 CLINVAR
MedGen C0008780 CLINVAR
  C3543826 CLINVAR
NCBI Gene DNAAF11 CLINVAR
OMIM 614930 CLINVAR
  614935 CLINVAR