RGD:13541498 Rat Genome Database

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Variant: RGD:13541498 -  Homo sapiens

RGD ID: 13541498
RS ID: rs199740539
ClinVar ID: CV508595
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,593,335
GRCh38 X 154,364,967
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.154364967C>T
NC_000023.10:g.153593335C>T
NM_001456.4:c.1692-10G>A
NM_001456.3:c.1692-10G>A
More... 		09/26/2018 intron variant benign|likely benign 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; Melnick-Needles osteodysplasty; Melnick-Needles syndrome; Nodular heterotopia bilateral periventricular; none provided; 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; X-linked periventricular heterotopia
Disease Annotations     Click to see Annotation Detail View


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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000877214 CLINVAR
  RCV001712618 CLINVAR
dbSNP (RS) rs199740539 CLINVAR
MedGen C1848213 CLINVAR
  C3661900 CLINVAR
NCBI Gene FLNA CLINVAR
OMIM 300017 CLINVAR
  300049 CLINVAR
  300537 CLINVAR
  304120 CLINVAR
  305620 CLINVAR
  309350 CLINVAR
SNOMED CT 448227009 CLINVAR