RGD:13525365 Rat Genome Database

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Variant: RGD:13525365 -  Homo sapiens

RGD ID: 13525365
RS ID: rs766814966
ClinVar ID: CV505220
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPRED1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 38,643,468
GRCh38 15 38,351,267
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152594.3:c.938C>T
NM_152594.2:c.938C>T
NC_000015.9:g.38643468C>T
NP_689807.1:p.Thr313Met
More... 		12/11/2023 missense variant likely benign|uncertain significance AllHighlyPenetrant; Neurofibromatosis type 1 like syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPRED1
Accession:XM_005254202
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 325
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEETATSDNECQGHDDGICFFHNSYARVRAVVMTRDDSSGGWLPLGGSGLSSVTVFKVPHQEENGCADFFIRGERLRDK
MVVLECMLKKDLIYNKVTPTFHHWKIDDKKFGLTFQSPADARAFDRGIRRAIEDISQGCPESKNEAEGADDLQANEEDSS
SSLVKDHLFQQETVVTSEPYRSSNIRPSPFEDLNARRVYMQSQANQITFGQPGLDIQSRSMEYVQRQISKECGSLKSQNR
VPLKSIRHVSFQDEDEIVRINPRDILIRRYADYRHPDMWKNDLERDDADSSIQFSKPDSKKSDYLYSCGDETKLSSPKDS
VVFKMQPSSLKIKKSKRRKEDGERSRCVYCQERFNHEENVRGKCQDAPDPIKRCIYQVSCMLCAESMLYHCMSDSEGDFS
DPCSCDTSDDKFCLRWLALVALSFIVPCMCCYVPLRMCHRCGEACGCCGGKHKAAG*

Gene Symbol:SPRED1
Accession:XM_047432201
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRDDSSGGWLPLGGSGLSSVTVFKVPHQEENGCADFFIRGERLRDKMVVLECMLKKDLIYNKVTPTFHHWKIDDKKFGL
TFQSPADARAFDRGIRRAIEDISQGCPESKNEAEGADDLQANEEDSSSSLVKDHLFQQETVVTSEPYRSSNIRPSPFEDL
NARRVYMQSQANQITFGQPGLDIQSRSMEYVQRQISKECGSLKSQNRVPLKSIRHVSFQDEDEIVRINPRDILIRRYADY
RHPDMWKNDLERDDADSSIQFSKPDSKKSDYLYSCGDETKLSSPKDSVVFKMQPSSLKIKKSKRRKEDGERSRCVYCQER
FNHEENVRGKCQDAPDPIKRCIYQVSCMLCAESMLYHCMSDSEGDFSDPCSCDTSDDKFCLRWLALVALSFIVPCMCCYV
PLRMCHRCGEACGCCGGKHKAAG*

Gene Symbol:SPRED1
Accession:XM_047432199
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRDDSSGGWLPLGGSGLSSVTVFKVPHQEENGCADFFIRGERLRDKMVVLECMLKKDLIYNKVTPTFHHWKIDDKKFGL
TFQSPADARAFDRGIRRAIEDISQGCPESKNEAEGADDLQANEEDSSSSLVKDHLFQQETVVTSEPYRSSNIRPSPFEDL
NARRVYMQSQANQITFGQPGLDIQSRSMEYVQRQISKECGSLKSQNRVPLKSIRHVSFQDEDEIVRINPRDILIRRYADY
RHPDMWKNDLERDDADSSIQFSKPDSKKSDYLYSCGDETKLSSPKDSVVFKMQPSSLKIKKSKRRKEDGERSRCVYCQER
FNHEENVRGKCQDAPDPIKRCIYQVSCMLCAESMLYHCMSDSEGDFSDPCSCDTSDDKFCLRWLALVALSFIVPCMCCYV
PLRMCHRCGEACGCCGGKHKAAG*

Gene Symbol:SPRED1
Accession:NM_152594
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEETATSDNDNSYARVRAVVMTRDDSSGGWLPLGGSGLSSVTVFKVPHQEENGCADFFIRGERLRDKMVVLECMLKKDL
IYNKVTPTFHHWKIDDKKFGLTFQSPADARAFDRGIRRAIEDISQGCPESKNEAEGADDLQANEEDSSSSLVKDHLFQQE
TVVTSEPYRSSNIRPSPFEDLNARRVYMQSQANQITFGQPGLDIQSRSMEYVQRQISKECGSLKSQNRVPLKSIRHVSFQ
DEDEIVRINPRDILIRRYADYRHPDMWKNDLERDDADSSIQFSKPDSKKSDYLYSCGDETKLSSPKDSVVFKMQPSSLKI
KKSKRRKEDGERSRCVYCQERFNHEENVRGKCQDAPDPIKRCIYQVSCMLCAESMLYHCMSDSEGDFSDPCSCDTSDDKF
CLRWLALVALSFIVPCMCCYVPLRMCHRCGEACGCCGGKHKAAG*

Gene Symbol:SPRED1
Accession:XM_047432200
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRDDSSGGWLPLGGSGLSSVTVFKVPHQEENGCADFFIRGERLRDKMVVLECMLKKDLIYNKVTPTFHHWKIDDKKFGL
TFQSPADARAFDRGIRRAIEDISQGCPESKNEAEGADDLQANEEDSSSSLVKDHLFQQETVVTSEPYRSSNIRPSPFEDL
NARRVYMQSQANQITFGQPGLDIQSRSMEYVQRQISKECGSLKSQNRVPLKSIRHVSFQDEDEIVRINPRDILIRRYADY
RHPDMWKNDLERDDADSSIQFSKPDSKKSDYLYSCGDETKLSSPKDSVVFKMQPSSLKIKKSKRRKEDGERSRCVYCQER
FNHEENVRGKCQDAPDPIKRCIYQVSCMLCAESMLYHCMSDSEGDFSDPCSCDTSDDKFCLRWLALVALSFIVPCMCCYV
PLRMCHRCGEACGCCGGKHKAAG*
Variant Samples
Additional References at PubMed
PMID:19920235   PMID:28492532   PMID:31573083  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000603059 CLINVAR
  RCV001854153 CLINVAR
dbSNP (RS) rs766814966 CLINVAR
MedGen C1969623 CLINVAR
  CN169374 CLINVAR
NCBI Gene SPRED1 CLINVAR
OMIM 609291 CLINVAR
  611431 CLINVAR