RGD:11596509 Rat Genome Database

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Variant: RGD:11596509 -  Homo sapiens

RGD ID: 11596509
RS ID: rs189886380
ClinVar ID: CV298896
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRP72  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 57,368,999
GRCh38 4 56,502,833
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_032796.1:g.40238G>A
NC_000004.12:g.56502833G>A
NC_000004.11:g.57368999G>A
LRG_1151:g.40238G>A
More... 		01/12/2018 3 prime utr variant benign|likely benign childhood <1 / 1 000 000 Bone marrow failure syndrome 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SRP72
Accession:NM_006947
Location:3UTRS;EXON

Gene Symbol:SRP72
Accession:NM_001267722
Location:3UTRS;EXON

Gene Symbol:SRP72
Accession:NR_151856
Location:EXON;NON-CODING

Gene Symbol:SRP72
Accession:XM_024454192
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000382993 CLINVAR
dbSNP (RS) rs189886380 CLINVAR
MedGen C3808553 CLINVAR
NCBI Gene SRP72 CLINVAR
OMIM 602122 CLINVAR
  614675 CLINVAR