RGD:127251321 Rat Genome Database

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Variant: RGD:127251321 -  Homo sapiens

RGD ID: 127251321
RS ID: rs1258182460
ClinVar ID: CV1056318
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPGRIP1L  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 53,656,270
GRCh38 16 53,622,358
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_696t1:c.3193-3150A>G
LRG_696t2:c.3295-2A>G
NM_001330538.2:c.3193-2A>G
NM_001127897.4:c.3193-3150A>G
More... 		08/17/2020 intron variant likely pathogenic|uncertain significance Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Meckel-Gruber syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RPGRIP1L
Accession:NM_015272
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:NM_001330538
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433880
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433879
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_017023100
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:NM_001127897
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433872
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433878
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_017023097
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:NM_001328423
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433873
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433874
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433875
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_011522970
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:NM_001308334
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_017023099
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433870
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_017023095
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433881
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433876
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_017023098
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_011522973
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_005255868
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:NM_001328422
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433869
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433877
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_011522971
Location:INTRON

Gene Symbol:RPGRIP1L
Accession:XM_047433871
Location:INTRON

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17558409   PMID:17960139   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001378533 CLINVAR
  RCV001751748 CLINVAR
dbSNP (RS) rs1258182460 CLINVAR
MedGen C0431399 CLINVAR
  C3661900 CLINVAR
NCBI Gene RPGRIP1L CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  610937 CLINVAR
SNOMED CT 253175003 CLINVAR