RGD:11624052 Rat Genome Database

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Variant: RGD:11624052 -  Homo sapiens

RGD ID: 11624052
RS ID: rs8039150
ClinVar ID: CV331693
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPRED1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 38,647,695
GRCh38 15 38,355,494
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.107644G>A
NC_000015.10:g.38355494G>A
NC_000015.9:g.38647695G>A
NM_152594.3:c.*3830G>A
More... 		01/12/2018 3 prime utr variant benign|likely benign childhood 1-9 / 100 000 Neurofibromatosis type 1 like syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPRED1
Accession:XM_005254202
Location:3UTRS;EXON

Gene Symbol:SPRED1
Accession:NM_152594
Location:3UTRS;EXON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000381241 CLINVAR
dbSNP (RS) rs8039150 CLINVAR
MedGen C1969623 CLINVAR
NCBI Gene SPRED1 CLINVAR
OMIM 609291 CLINVAR
  611431 CLINVAR