RGD:8562691 Rat Genome Database

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Variant: RGD:8562691 -  Homo sapiens

RGD ID: 8562691
RS ID: rs863223296
ClinVar ID: CV26789
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,599,240
GRCh38 X 154,370,872
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_000023.11:g.154370872C>T
NC_000023.10:g.153599240C>T
NM_001110556.2:c.373+1G>A
LRG_745:g.1445C>T
More... 		07/12/2013 splice donor variant pathogenic all ages|variable <1 / 1 000 000 Ehlers-Danlos syndrome with periventricular heterotopia; Heterotopia familial nodular; HETEROTOPIA, PERIVENTRICULAR, 1; HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT; Nodular heterotopia bilateral periventricular; Periventricular nodular heterotopia 1; PERIVENTRICULAR NODULAR HETEROTOPIA 4; X-linked periventricular heterotopia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLNA
Accession:NM_001110556
Location:INTRON

Gene Symbol:FLNA
Accession:NM_001456
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:3658675   PMID:9883725  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012516 CLINVAR
dbSNP (RS) rs863223296 CLINVAR
MedGen C1848213 CLINVAR
NCBI Gene FLNA CLINVAR
OMIM 300017 CLINVAR
  300049 CLINVAR
  300537 CLINVAR
OMIM Allele 300017.0004 CLINVAR
SNOMED CT 448227009 CLINVAR