RGD:11637228 Rat Genome Database

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Variant: RGD:11637228 -  Homo sapiens

RGD ID: 11637228
RS ID: rs370859689
ClinVar ID: CV271785
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDH19  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 99,605,709
GRCh38 X 100,350,711
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021319.1:g.64563A>G
NC_000023.11:g.100350711T>C
NC_000023.10:g.99605709T>C
NM_001105243.2:c.2476-7A>G
More... 		12/31/2019 intron variant benign|conflicting interpretations of pathogenicity|uncertain significance Early infantile epileptic encephalopathy 9; EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; JUBERG-HELLMAN SYNDROME; none provided; PCDH19-Related X-Linked Female-Limited Epilepsy with Mental Retardation
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:PCDH19
Accession:NM_001184880
Location:INTRON

Gene Symbol:PCDH19
Accession:NM_020766
Location:INTRON

Gene Symbol:PCDH19
Accession:NM_001105243
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000281327 CLINVAR
  RCV001082416 CLINVAR
dbSNP (RS) rs370859689 CLINVAR
MedGen C1848137 CLINVAR
  C3661900 CLINVAR
NCBI Gene PCDH19 CLINVAR
OMIM 300088 CLINVAR
  300460 CLINVAR