RGD:155734615 Rat Genome Database

Variant: RGD:155734615 - Homo sapiens

RGD ID:

155734615

ClinVar ID:

CV1799004

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DNAAF1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	84,188,320
GRCh38	16	84,154,715

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_178452.6:c.491G>A NG_021174.2:g.14409G>A NC_000016.10:g.84154715G>A NC_000016.9:g.84188320G>A More...	08/13/2022	missense variant	likely benign\|conflicting interpretations of pathogenicity

Disease Annotations Click to see Annotation Detail View

primary ciliary dyskinesia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	DNAAF1
Accession:	NM_178452
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM NLLHKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS IEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPP VEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVK VKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDDDETG KSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQDT KSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDLTAFP APKAS*

Gene Symbol:	DNAAF1
Accession:	XM_006721129
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM NLLHKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS IEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPP VEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVK VKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDDDETG KSLEDQVKNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQ DTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDLTA FPAPKAS*

Gene Symbol:	DNAAF1
Accession:	XM_011522854
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM NLLHKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKET FCIDDLPDLEDDDETGKSLEDQVKNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFT DIFKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCV GVAQPSQALPTWDLTAFPAPKAS*

Gene Symbol:	DNAAF1
Accession:	XM_011522853
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM NLLHKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKET FCIDDLPDLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDI FKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPEMGFHHVDQAGLELLT SGDLFASASQSAGITVPTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS*

Gene Symbol:	DNAAF1
Accession:	XM_011522855
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM NLLHKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKET FCIDDLPDLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDI FKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGV AQPSQALPTWDLTAFPAPKAS*

Gene Symbol:	DNAAF1
Accession:	XM_011522857
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM NLLHKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKET FCIDDLPDLEDDDETGKSLEDQVKGKEMKTGEGKERGESVRHNGEFSQSDVTLLHPEAITGITRSPHVPDPYPEGEGGIS HHL*

Gene Symbol:	DNAAF1
Accession:	XM_011522858
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM NLLHKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKET FCIDDLPDLEDDDETGKSLEDQGKEMKTGEGKERGESVRHNGEFSQSDVTLLHPEAITGITRSPHVPDPYPEGEGGISHH L*

Gene Symbol:	DNAAF1
Accession:	XM_017022918
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM NLLHKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS IEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPP VEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVK VKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKETFCIDDLPDLEDDDETG KSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQDT KSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPEMGFHHVDQAGLELLTSGDLFASASQSAGITV PTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS*

Gene Symbol:	DNAAF1
Accession:	XM_017022919
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	77

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQMNLLHKIE NLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSILESMPDL RVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDSIEALAMI KQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFEAKDELCP EKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAE TLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKETFCIDDLP DLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPTDTLSNIFAVSKDTSKAARVPFTDIFKKEAKR DLEIRKQDTKSPRPLIQELSDEDPSGQLLMPPTCQRDAAPLTSSGDRDSDFLAASSPEMGFHHVDQAGLELLTSGDLFAS ASQSAGITVPTESAATPPETCVGVAQPSQALPTWDLTAFPAPKAS*

Gene Symbol:	DNAAF1
Accession:	XM_047433589
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM NLLHKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKET FCIDDLPDLEDDDETGKSLEDQVKRPLLALPGAHTCQTRTLREKEASAIISEHELSSKENRHSYCGGPAVQGAKSQRVCE GNGVQGHAKQSPGLRGAPSQVPGG*

Gene Symbol:	DNAAF1
Accession:	XM_047433590
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHSQQKQSGDNGSGGHFAHPRED REDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFDRIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQM NLLHKIENLEPLQKLDALNLSNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYAAEKEERQQWESRERKKITDS IEALAMIKQRAEERKRQRESQERGMRSAEDNSPRVPLRLGEMTSSDDGENVPASAEGKEEPPGDRETRQKMELFVKESFE AKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAETLLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEP EGTLPAETLLLSPPVKVKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLETKET FCIDDLPDLEDDDETGKSLEDQRPLLALPGAHTCQTRTLREKEASAIISEHELSSKENRHSYCGGPAVQGAKSQRVCEGN GVQGHAKQSPGLRGAPSQVPGG*

Gene Symbol:	DNAAF1
Accession:	NM_001318756
Location:	INTRON

Gene Symbol:	DNAAF1
Accession:	XM_017022920
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002340714	CLINVAR
MedGen	C0008780	CLINVAR
NCBI Gene	DNAAF1	CLINVAR
OMIM	613190	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:155734615 - Homo sapiens

Imported Disease Annotations - ClinVar