RGD:151761966 Rat Genome Database

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Variant: RGD:151761966 -  Homo sapiens

RGD ID: 151761966
RS ID: rs754836834
ClinVar ID: CV1433754
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 84,205,887
GRCh38 16 84,172,281
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_178452.6:c.1550C>T
NM_001318756.1:c.842C>T
NG_021174.1:g.32023C>T
NC_000016.10:g.84172281C>T
More...
11/13/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAAF1
Accession:NM_178452
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 517
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED
REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS
IEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPP
VEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVK
VKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDDDETG
KSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQDT
KSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDLTAFP
APKAS*

Gene Symbol:DNAAF1
Accession:XM_006721129
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 517
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED
REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS
IEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPP
VEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVK
VKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDDDETG
KSLEDQVKNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQ
DTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDLTA
FPAPKAS*

Gene Symbol:DNAAF1
Accession:XM_011522854
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED
REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS
IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE
AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP
EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKET
FCIDDLPDLEDDDETGKSLEDQVKNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFT
DIFKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCV
GVAQPSQALPTWDLTAFPAPKAS*

Gene Symbol:DNAAF1
Accession:XM_011522853
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED
REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS
IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE
AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP
EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKET
FCIDDLPDLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDI
FKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPEMGFHHVDQAGLELLT
SGDLFASASQSAGITVPTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS*

Gene Symbol:DNAAF1
Accession:XM_011522855
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED
REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS
IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE
AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP
EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKET
FCIDDLPDLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDI
FKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGV
AQPSQALPTWDLTAFPAPKAS*

Gene Symbol:DNAAF1
Accession:XM_011522857
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED
REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS
IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE
AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP
EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKET
FCIDDLPDLEDDDETGKSLEDQVKGKEMKTGEGKERGESVRHNGEFSQSDVTLLHPEAITGITRSPHVPDPYPEGEGGIS
HHL*

Gene Symbol:DNAAF1
Accession:XM_011522858
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED
REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS
IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE
AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP
EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKET
FCIDDLPDLEDDDETGKSLEDQGKEMKTGEGKERGESVRHNGEFSQSDVTLLHPEAITGITRSPHVPDPYPEGEGGISHH
L*

Gene Symbol:DNAAF1
Accession:NM_001318756
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDSIEALAMIKQRAE
ERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSG
EEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLS
PPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDD
DETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIR
KQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDL
TAFPAPKAS*

Gene Symbol:DNAAF1
Accession:XM_017022918
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 517
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED
REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS
IEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPP
VEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVK
VKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDDDETG
KSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQDT
KSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPEMGFHHVDQAGLELLTSGDLFASASQSAGITV
PTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS*

Gene Symbol:DNAAF1
Accession:XM_017022919
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 446
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQMNLLRKIE
NLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSILESMPDL
RVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDSIEALAMI
KQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCP
EKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAE
TLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKETFCIDDLP
DLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKR
DLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPEMGFHHVDQAGLELLTSGDLFAS
ASQSAGITVPTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS*

Gene Symbol:DNAAF1
Accession:XM_017022920
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDSIEALAMIKQRAE
ERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSG
EEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLS
PPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDD
DETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIR
KQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPEMGFHHVDQAGLELLTSGDLFASASQSA
GITVPTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS*

Gene Symbol:DNAAF1
Accession:XM_047433589
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED
REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS
IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE
AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP
EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKET
FCIDDLPDLEDDDETGKSLEDQVKRPLLALPGAHTCQTRTLREKEASAIISEHELSSKENRHSYCGGPAVQGAKSQRVCE
GNGVQGHAKQSPGLRGAPSQVPGG*

Gene Symbol:DNAAF1
Accession:XM_047433590
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED
REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM
NLLRKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS
IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE
AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP
EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVVTEGVFVTELDGTRTEDLETIRLETKET
FCIDDLPDLEDDDETGKSLEDQRPLLALPGAHTCQTRTLREKEASAIISEHELSSKENRHSYCGGPAVQGAKSQRVCEGN
GVQGHAKQSPGLRGAPSQVPGG*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002024476 CLINVAR
  RCV002548931 CLINVAR
dbSNP (RS) rs754836834 CLINVAR
MedGen C0008780 CLINVAR
  C0950123 CLINVAR
NCBI Gene DNAAF1 CLINVAR
OMIM 613190 CLINVAR