RGD:11544424 Rat Genome Database

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Variant: RGD:11544424 -  Homo sapiens

RGD ID: 11544424
RS ID: rs78374272
ClinVar ID: CV252662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRPPA  CRPPA-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 16,255,641
GRCh38 7 16,216,016
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.16216016T>C
NC_000007.13:g.16255641T>C
NM_001101417.4:c.1101+50A>G
NM_001368197.1:c.1146+50A>G
More... 		07/07/2018 intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CRPPA
Accession:NM_001101426
Location:INTRON

Gene Symbol:CRPPA
Accession:NM_001368197
Location:INTRON

Gene Symbol:CRPPA
Accession:NM_001101417
Location:INTRON

Gene Symbol:CRPPA
Accession:NR_160656
Location:INTRON;NON-CODING

Gene Symbol:CRPPA-AS1
Accession:NR_038947
Location:INTRON;NON-CODING

Gene Symbol:CRPPA-AS1
Accession:NR_038946
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000243778 CLINVAR
  RCV001722297 CLINVAR
dbSNP (RS) rs78374272 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ISPD CLINVAR
  ISPD-AS1 CLINVAR
OMIM 614631 CLINVAR