RGD:11620726 Rat Genome Database

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Variant: RGD:11620726 -  Homo sapiens

RGD ID: 11620726
RS ID: rs541556786
ClinVar ID: CV331697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPRED1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 38,648,337
GRCh38 15 38,356,136
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008980.1:g.108286C>A
NC_000015.10:g.38356136C>A
NC_000015.9:g.38648337C>A
NM_152594.2:c.*4472C>A
More... 		09/01/2022 3 prime utr variant benign|uncertain significance childhood 1-9 / 100 000 Neurofibromatosis type 1 like syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPRED1
Accession:NM_152594
Location:3UTRS;EXON

Gene Symbol:SPRED1
Accession:XM_047432200
Location:3UTRS;EXON

Gene Symbol:SPRED1
Accession:XM_005254202
Location:3UTRS;EXON

Gene Symbol:SPRED1
Accession:XM_047432201
Location:3UTRS;EXON

Gene Symbol:SPRED1
Accession:XM_047432199
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000340514 CLINVAR
  RCV003401325 CLINVAR
dbSNP (RS) rs541556786 CLINVAR
MedGen C1969623 CLINVAR
  C3661900 CLINVAR
NCBI Gene SPRED1 CLINVAR
OMIM 609291 CLINVAR
  611431 CLINVAR