RGD:13497648 Rat Genome Database

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Variant: RGD:13497648 -  Homo sapiens

RGD ID: 13497648
RS ID: rs372673802
ClinVar ID: CV471817
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,585,799
GRCh38 X 154,357,431
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001110556.1:c.4945+3G>A
NM_001110556.2:c.4945+3G>A
NC_000023.10:g.153585799C>T
NM_001456.3:c.4945+3G>A
More... 		02/19/2020 intron variant likely benign|uncertain significance Andre syndrome; Cranio-oro-digital syndrome; Ehlers-Danlos syndrome with periventricular heterotopia; Faciopalatoosseous syndrome; Frontometaphyseal dysplasia; Heterotopia familial nodular; HETEROTOPIA, PERIVENTRICULAR, 1; Heterotopia, periventricular, Ehlers-Danlos variant; Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability; Melnick-Needles osteodysplasty; Melnick-Needles syndrome; Nodular heterotopia bilateral periventricular; OPD 2 syndrome; OPD II SYNDROME; Osteodysplasty of Melnick and Needles; Oto-palato-digital syndrome type 2; Oto-palato-digital syndrome, type II; Otopalatodigital Syndrome, Type II; Periventricular nodular heterotopia 1; PERIVENTRICULAR NODULAR HETEROTOPIA 4; Thoracic aortic aneurysms and dissections; X-linked periventricular heterotopia
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:FLNA
Accession:NM_001456
Location:INTRON

Gene Symbol:FLNA
Accession:NM_001110556
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000525468 CLINVAR
  RCV001252499 CLINVAR
  RCV002341326 CLINVAR
dbSNP (RS) rs372673802 CLINVAR
MedGen C1848213 CLINVAR
  C3714756 CLINVAR
  C4707243 CLINVAR
NCBI Gene FLNA CLINVAR
OMIM 300017 CLINVAR
  300049 CLINVAR
  300537 CLINVAR
  304120 CLINVAR
  305620 CLINVAR
  309350 CLINVAR
SNOMED CT 228156007 CLINVAR
  448227009 CLINVAR