RGD:156072084 Rat Genome Database

Variant: RGD:156072084 - Homo sapiens

RGD ID:

156072084

ClinVar ID:

CV2251464

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RNLS

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	90,332,782
GRCh38	10	88,573,025

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_001031709.3:c.404T>A NM_018363.4:c.404T>A NC_000010.11:g.88573025A>T NC_000010.10:g.90332782A>T More...	11/09/2021	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RNLS
Accession:	XM_011539927
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	135

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLT MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGP SLVIHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQGWYIEFLSNANSN*

Gene Symbol:	RNLS
Accession:	XM_017016382
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLTMPV PEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGPSLV IHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQVPSAGVILGCAKSPWMMAIGFPI*

Gene Symbol:	RNLS
Accession:	XM_017016384
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLTMPV PEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIGYKCCCQLSW PNDSASQTFPCMWRGWIYSVQL*

Gene Symbol:	RNLS
Accession:	XM_047425435
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	135

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLT MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGP SLVIHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQILFGGGSGCAHRRA*

Gene Symbol:	RNLS
Accession:	XM_017016380
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	135

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLT MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGP SLVIHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQVPSAGVILGCAKSPWMMAIGFPI*

Gene Symbol:	RNLS
Accession:	NM_018363
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	135

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLT MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGP SLVIHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQVPSAGVILGCAKSPWMMAIGFPI*

Gene Symbol:	RNLS
Accession:	NM_001031709
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	135

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLT MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGP SLVIHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQVTNAAANCPGQMTLHHKPFLACGGDGFT QSNFDGCITSALCVLEALKNYI*

Gene Symbol:	RNLS
Accession:	XM_005269947
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	135

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLT MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIGYKCCCQ LSWPNDSASQTFPCMWRGWIYSVQL*

Gene Symbol:	RNLS
Accession:	XM_017016381
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	135

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLT MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGP SLVIHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQ*

Gene Symbol:	RNLS
Accession:	XM_005269949
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	135

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLT MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIVQIKAAT D*

Gene Symbol:	RNLS
Accession:	XM_011539924
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	135

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGGRMTTACSPHNPQCTADLGAQYITCTPHYAKKHQRFYDEL LAYGVLRPLSSPIEGMVMKEGDCNFVAPQGISSIIKHYLKESGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLT MPVPEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGP SLVIHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQVPSAGVILGCAKSPWMMAIGFPI*

Gene Symbol:	RNLS
Accession:	XM_047425436
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLTMPV PEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGPSLV IHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQGWYIEFLSNANSN*

Gene Symbol:	RNLS
Accession:	XM_005269948
Location:	EXON
Amino Acid Prediction:	I to N (nonsynonymous)
Amino Acid Position:	52

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQVLIVGAGMTGSLCAALLRRQTSGPLYLAVWDKAEDSGAEVYFRHRVTQNNLRDDKWEVSKQTGSPEQFDLIVLTMPV PEILQLQGDITTLISECQRQQLEAVSYSSRYALGLFYEAGTKIDVPWAGQYITSNPCIRFVSIDNKKRNIESSEIGPSLV IHTTVPFGVTYLEHSIEDVQELVFQQLENILPGLPQPIATKCQKWRHSQVTNAAANCPGQMTLHHKPFLACGGDGFTQSN FDGCITSALCVLEALKNYI*

Gene Symbol:	RNLS
Accession:	XR_001747122
Location:	EXON;NON-CODING

Gene Symbol:	RNLS
Accession:	XM_017016385
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002783228	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	RNLS	CLINVAR
OMIM	609360	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:156072084 - Homo sapiens

Imported Disease Annotations - ClinVar