RGD:11550778 Rat Genome Database

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Variant: RGD:11550778 -  Homo sapiens

RGD ID: 11550778
RS ID: rs7970076
ClinVar ID: CV254710
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 66,786,073
GRCh38 12 66,392,293
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
NC_000012.12:g.66392293A>G
NC_000012.11:g.66786073A>G
NG_021400.2:g.681973T>C
NM_001366723.1:c.2383+15T>C
More... 		08/10/2021 intron variant benign antenatal 1-9 / 1 000 000 AllHighlyPenetrant; Cryptophthalmos with other malformations; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRIP1
Accession:NM_001178074
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_005268757
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_005268754
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428619
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379345
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379349
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428616
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_021150
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001366723
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379347
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428622
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001366724
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001366722
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_017019098
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428621
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379351
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379348
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379346
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428617
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428618
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_017019100
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428620
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252195 CLINVAR
  RCV000290142 CLINVAR
  RCV001094207 CLINVAR
  RCV001597023 CLINVAR
dbSNP (RS) rs7970076 CLINVAR
MedGen C3661900 CLINVAR
  C4540040 CLINVAR
  C4551480 CLINVAR
  CN169374 CLINVAR
NCBI Gene GRIP1 CLINVAR
OMIM 219000 CLINVAR
  604597 CLINVAR
  617667 CLINVAR