RGD:8568910 Rat Genome Database

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Variant: RGD:8568910 -  Homo sapiens

RGD ID: 8568910
RS ID: rs397515397
ClinVar ID: CV40243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRPPA  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 16,348,146
GRCh38 7 16,308,521
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_000007.14:g.16308521A>C
NC_000007.13:g.16348146A>C
NM_001101417.4:c.639+2T>G
NM_001368197.1:c.685-7055T>G
More... 		01/30/2013 intron variant|splice donor variant|splice-5 pathogenic neonatal/infancy 1-9 / 1 000 000|<1 / 1 000 000 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRPPA
Accession:NM_001368197
Location:INTRON

Gene Symbol:CRPPA
Accession:NM_001101426
Location:INTRON

Gene Symbol:CRPPA
Accession:NM_001101417
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:22522420  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000024271 CLINVAR
dbSNP (RS) rs397515397 CLINVAR
MedGen C3553330 CLINVAR
NCBI Gene ISPD CLINVAR
OMIM 614631 CLINVAR
  614643 CLINVAR
OMIM Allele 614631.0003 CLINVAR