RGD:28882668 Rat Genome Database

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Variant: RGD:28882668 -  Homo sapiens

RGD ID: 28882668
RS ID: rs140374059
ClinVar ID: CV875414
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPGRIP1L  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 53,634,478
GRCh38 16 53,600,566
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.53600566C>T
NC_000016.9:g.53634478C>T
NM_001308334.3:c.*1510G>A
NG_008991.2:g.108294G>A
More...
01/13/2018 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RPGRIP1L
Accession:NM_001127897
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:NM_015272
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:XM_005255868
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:NM_001308334
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:XM_017023095
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:XM_017023099
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:XM_017023098
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:NM_001330538
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:XM_047433872
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:XM_047433871
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:XM_047433870
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:XM_047433869
Location:3UTRS;EXON

Gene Symbol:RPGRIP1L
Accession:XM_011522971
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_011522970
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_011522973
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_017023097
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_017023100
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:NM_001328422
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:NM_001328423
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433878
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433873
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433874
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433877
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433875
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433879
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433881
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433876
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433880
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XR_933260
Location:INTRON;NON-CODING

Gene Symbol:RPGRIP1L
Accession:XR_007064862
Location:INTRON;NON-CODING

Gene Symbol:RPGRIP1L
Accession:XR_007064860
Location:INTRON;NON-CODING

Gene Symbol:RPGRIP1L
Accession:XR_007064861
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001118208 CLINVAR
  RCV001118209 CLINVAR
  RCV001118210 CLINVAR
dbSNP (RS) rs140374059 CLINVAR
MedGen C1969052 CLINVAR
  C1969053 CLINVAR
  CN119610 CLINVAR
NCBI Gene RPGRIP1L CLINVAR
OMIM 610937 CLINVAR
  611560 CLINVAR
  611561 CLINVAR