RGD:401772626 Rat Genome Database

Variant: RGD:401772626 - Homo sapiens

RGD ID:

401772626

ClinVar ID:

CV2719702

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RHBDL3

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	30,615,838
GRCh38	17	32,288,819

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_001363834.1:c.139C>G NM_001363836.1:c.28C>G NM_001330181.2:c.298C>G NM_001363835.1:c.322C>G More...	06/05/2023	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RHBDL3
Accession:	NM_138328
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	108

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDHWKVLFDQFDPGNTGYISTGKFRSLLESHSSKLDPHKREVLLA LADSHADGQIGYQDFVSLMSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCC PPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVP LEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMKCQFKLLRMAVALICMSMEFG RAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDLKL PPPP*

Gene Symbol:	RHBDL3
Accession:	XM_006721734
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	66

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEFDPGNTGYISTGKFRSLLESHSSKLDPHKREVLLALADSHADGQIGYQDFVSLMSNKRSNSFGQAILQGNRRLSSKA LLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLV YHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVY ALVSAHLANIVMNWSGMKCQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRNYE QRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDLKLPPPP*

Gene Symbol:	RHBDL3
Accession:	XM_017024275
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	55

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDHWKVLFDQMSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQ RLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWR YLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAELVRHEVPVQAAADGCGPYLYEHGVWAGRVAPL PPVGLSPVPSPKLCGALGWRGRGHHPGRGGPEELRAEAPGPVTVVDFCGHVHRLRAVRCLLEHLCLHPAGLKAAASPLRA GGPRSGRGGKSSTHRERLRGFFSSPAQLGRADKDRRLWATVMFVFRFGHTVETLF*

Gene Symbol:	RHBDL3
Accession:	XM_017024273
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	100

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDFDPGNTGYISTGKFRSLLESHSSKLDPHKREVLLALADSHADG QIGYQDFVSLMSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMIT VTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGAT RIGLVYVAGVVAELVRHEVPVQAAADGCGPYLYEHGVWAGRVAPLPPVGLSPVPSPKLCGALGWRGRGHHPGRGGPEELR AEAPGPVTVVDFCGHVHRLRAVRCLLEHLCLHPAGLKAAASPLRAGGPRSGRGGKSSTHRERLRGFFSSPAQLGRADKDR RLWATVMFVFRFGHTVETLF*

Gene Symbol:	RHBDL3
Accession:	XM_017024276
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	47

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDMSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAY ETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMH AGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAELVRHEVPVQAAADGCGPYLYEHGVWAGRVAPLPPVGLSPV PSPKLCGALGWRGRGHHPGRGGPEELRAEAPGPVTVVDFCGHVHRLRAVRCLLEHLCLHPAGLKAAASPLRAGGPRSGRG GKSSTHRERLRGFFSSPAQLGRADKDRRLWATVMFVFRFGHTVETLF*

Gene Symbol:	RHBDL3
Accession:	XM_017024274
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	66

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEFDPGNTGYISTGKFRSLLESHSSKLDPHKREVLLALADSHADGQIGYQDFVSLMSNKRSNSFGQAILQGNRRLSSKA LLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLV YHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAELVRHEVPVQAAADGCGPYLYE HGVWAGRVAPLPPVGLSPVPSPKLCGALGWRGRGHHPGRGGPEELRAEAPGPVTVVDFCGHVHRLRAVRCLLEHLCLHPA GLKAAASPLRAGGPRSGRGGKSSTHRERLRGFFSSPAQLGRADKDRRLWATVMFVFRFGHTVETLF*

Gene Symbol:	RHBDL3
Accession:	XM_017024278
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	10

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFL YNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGV VAELVRHEVPVQAAADGCGPYLYEHGVWAGRVAPLPPVGLSPVPSPKLCGALGWRGRGHHPGRGGPEELRAEAPGPVTVV DFCGHVHRLRAVRCLLEHLCLHPAGLKAAASPLRAGGPRSGRGGKSSTHRERLRGFFSSPAQLGRADKDRRLWATVMFVF RFGHTVETLF*

Gene Symbol:	RHBDL3
Accession:	XM_017024277
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	10

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFL YNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGV VAELVRHEVPVQAAADGCGPYLYEHGVWAGRVAPLPPVGLSPVPSPKLCGALGWRGRGHHPGRGGPEELRAEAPGPVTVV DFCGHVHRLRAVRCLLEHLCLHPAGLKAAASPLRAGGPRSGRGGKSSTHRERLRGFFSSPAQLGRADKDRRLWATVMFVF RFGHTVETLF*

Gene Symbol:	RHBDL3
Accession:	NM_001330181
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	100

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDFDPGNTGYISTGKFRSLLESHSSKLDPHKREVLLALADSHADG QIGYQDFVSLMSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMIT VTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGAT RIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMKCQFKLLRMAVALICMSMEFGRAVWLRFH PSAYPPCPHPSFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDLKLPPPP*

Gene Symbol:	RHBDL3
Accession:	NM_001363835
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	108

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDHWKVLFDQFDPGNTGYISTGKFRSLLESHSSKLDPHKREVLLA LADSHADGQIGYQDFVSLMSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCC PPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVP LEMVHGATRIGLVYVAGVVAELVRHEVPVQAAADGCGPYLYEHGVWAGRVAPLPPVGLSPVPSPKLCGALGWRGRGHHPG RGGPEELRAEAPGPVTVVDFCGHVHRLRAVRCLLEHLCLHPAGLKAAASPLRAGGPRSGRGGKSSTHRERLRGFFSSPAQ LGRADKDRRLWATVMFVFRFGHTVETLF*

Gene Symbol:	RHBDL3
Accession:	NM_001363836
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	10

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFL YNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGV VAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMKCQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHP SFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDLKLPPPP*

Gene Symbol:	RHBDL3
Accession:	NM_001363834
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	47

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDMSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAY ETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMH AGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMKC QFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWIFVAMYTVF VLFAVFWNIFAYTLLDLKLPPPP*

Gene Symbol:	RHBDL3
Accession:	XM_047435507
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	55

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDHWKVLFDQMSNKRSNSFGQAILQGNRRLSSKALLEEKGLSLSQ RLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWR YLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIV MNWSGMKCQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWI FVAMYTVFVLFAVFWNIFAYTLLDLKLPPPP*

Gene Symbol:	RHBDL3
Accession:	XR_001752439
Location:	EXON;NON-CODING

Gene Symbol:	RHBDL3
Accession:	XM_017024280
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV003304728	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	RHBDL3	CLINVAR
OMIM	619017	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:401772626 - Homo sapiens

Imported Disease Annotations - ClinVar