RGD:11616379 Rat Genome Database

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Variant: RGD:11616379 -  Homo sapiens

RGD ID: 11616379
RS ID: rs188800373
ClinVar ID: CV334348
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRIP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 67,072,856
GRCh38 12 66,679,076
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.66679076T>C
NC_000012.11:g.67072856T>C
NM_001366723.1:c.134-82149A>G
NM_001366724.1:c.134-82149A>G
More... 		01/13/2018 5 prime utr variant uncertain significance antenatal 1-9 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRIP1
Accession:NM_021150
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_005268754
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001366723
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379345
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428622
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001366722
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379348
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428621
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379347
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379346
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428618
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_017019098
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001366724
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_017019100
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379351
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001379349
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428620
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428619
Location:INTRON

Gene Symbol:GRIP1
Accession:NM_001178074
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_005268757
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428617
Location:INTRON

Gene Symbol:GRIP1
Accession:XM_047428616
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000294298 CLINVAR
dbSNP (RS) rs188800373 CLINVAR
MedGen C4540040 CLINVAR
NCBI Gene GRIP1 CLINVAR
OMIM 604597 CLINVAR
  617667 CLINVAR