RGD:15192157 Rat Genome Database

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Variant: RGD:15192157 -  Homo sapiens

RGD ID: 15192157
RS ID: rs372875785
ClinVar ID: CV731420
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 39,146,329
GRCh38 22 38,750,324
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199580.2:c.425-4G>A
NM_015374.3:c.425-4G>A
NM_001199579.2:c.484G>A
NC_000022.11:g.38750324C>T
More... 		10/12/2018 intron variant likely benign Humeroperoneal neuromuscular disease, (formerly); Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; Scapuloperoneal syndrome, X-linked (formerly)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SUN2
Accession:NM_001394428
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRRSQRLTRYSQGDDDGSSSSGGSSVAGSQSTLFKDSPLRTLKRKSSNMKRLSPAPQLGPSSDAHTSYYSESLVHESWF
PPRSSLEELHGDANWGEDLRVRRRRGTGGSESSRASGLVGRKATEDFLGSSSGYSSEDDYVEDSEGRGSKVTETEPVSSF
PTGYSDVDQQSSSSRLRSAVSRAGSLLWMVATSPGRLFRLLYWWAGTTWYRLTTAASLLDVFVLTRRFSSLKTFLWFLLP
LLLLTCLTYGAWYFYPYGLQTFHPALVSWWAAKDSRRPDEGWEARDSSPHFQAEQRVMSRVHSLERRLEALAAEFSSNWQ
KEAMRLERLELRQGAPGQGGGGGLSHEDTLALLEGLVSRREAALKEDFRRETAARIQEELSALRAEHQQDSEDLFKKIVR
ASQESEARIQQLKSEWQSMTQESFQESSVKELRRLEDQLAGLQQELAALALKQSSVAEEVGLLPQQIQAVRDDVESQFPA
WISQFLARGGGGRVGLLQREEMQAQLRELESKILTHVAEMQGKSAREAAASLSLTLQKEGVIGVTEEQVHHIVKQALQRY
SEDRIGLADYALESGGASVISTRCSETYETKTALLSLFGIPLWYHSQSPRVILQPDVHPGNCWAFQGPQGFAVVRLSARI
RPTAVTLEHVPKALSPNSTISSAPKDFAIFGFDEDLQQEGTLLGKFTYDQDGEPIQTFHFQAPTMATYQVVELRILTNWG
HPEYTCIYRFRVHGEPAH*

Gene Symbol:SUN2
Accession:NM_001199579
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRRSQRLTRYSQGDDDGSSSSGGSSVAGSQSTLFKDSPLRTLKRKSSNMKRLSPAPQLGPSSDAHTSYYSESLVHESWF
PPRSSLEELHGDANWGEDLRVRRRRGTGGSESSRASGLVGRKATEDFLGSSSGYSSEDDYVEDSEGRGSKVTETEPVSSF
PTGYSDVDQQSSSSRLRSAVSRAGSLLWMVATSPGRLFRLLYWWAGTTWYRLTTAASLLDVFVLTRRFSSLKTFLWFLLP
LLLLTCLTYGAWYFYPYGLQTFHPALVSWWAAKDSRRPDEGWEARDSSPHFQAEQRVMSRVHSLERRLEALAAEFSSNWQ
KEAMRLERLELRQGAPGQGGGGGLSHEDTLALLEGLVSRREAALKEDFRRETAARIQEELSALRAEHQQDSEDLFKKIVR
ASQESEARIQQLKSEWQSMTQESFQESSVKELRRLEDQLAGLQQELAALALKQSSVAEEVGLLPQQIQAVRDDVESQFPA
WISQFLARGGGGRVGLLQREEMQAQLRELESKILTHVAEMQGKSAREAAASLSLTLQKEGVIGVTEEQVHHIVKQALQRY
SEDRIGLADYALESGGASVISTRCSETYETKTALLSLFGIPLWYHSQSPRVILQPDVHPGNCWAFQGPQGFAVVRLSARI
RPTAVTLEHVPKALSPNSTISSAPKDFAIFGFDEDLQQEGTLLGKFTYDQDGEPIQTFHFQAPTMATYQVVELRILTNWG
HPEYTCIYRFRVHGEPAH*

Gene Symbol:SUN2
Accession:NM_001394439
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394445
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394434
Location:INTRON

Gene Symbol:SUN2
Accession:XM_047441312
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394429
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001199580
Location:INTRON

Gene Symbol:SUN2
Accession:XM_017028748
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394443
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394427
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394440
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394441
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394436
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394438
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394442
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394430
Location:INTRON

Gene Symbol:SUN2
Accession:XM_047441310
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394431
Location:INTRON

Gene Symbol:SUN2
Accession:XM_047441313
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394444
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394437
Location:INTRON

Gene Symbol:SUN2
Accession:XM_047441311
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394432
Location:INTRON

Gene Symbol:SUN2
Accession:NM_015374
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394435
Location:INTRON

Gene Symbol:SUN2
Accession:NM_001394433
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000888584 CLINVAR
dbSNP (RS) rs372875785 CLINVAR
MedGen C0410189 CLINVAR
NCBI Gene SUN2 CLINVAR
OMIM 613569 CLINVAR
SNOMED CT 111508004 CLINVAR