RGD:13503668 Rat Genome Database

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Variant: RGD:13503668 -  Homo sapiens

RGD ID: 13503668
RS ID: rs1557177485
ClinVar ID: CV470602
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,587,775
GRCh38 X 154,359,407
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.154359407C>A
NC_000023.10:g.153587775C>A
NM_001110556.2:c.4143-1G>T
NG_011506.2:g.20232G>T
More... 		09/27/2017 splice acceptor variant likely pathogenic 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; 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_001110556
Location:INTRON

Gene Symbol:FLNA
Accession:NM_001456
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:16684786   PMID:20730588   PMID:26471271   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002231779 CLINVAR
dbSNP (RS) rs1557177485 CLINVAR
MedGen C1848213 CLINVAR
NCBI Gene FLNA CLINVAR
OMIM 300017 CLINVAR
  300049 CLINVAR
  300537 CLINVAR
  304120 CLINVAR
  305620 CLINVAR
  309350 CLINVAR
SNOMED CT 448227009 CLINVAR