RGD:8561911 Rat Genome Database

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Variant: RGD:8561911 -  Homo sapiens

RGD ID: 8561911
RS ID: rs1928435502
ClinVar ID: CV25823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FRMD7  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 131,233,494
GRCh38 X 132,099,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001306193.2:c.205+2T>G
LRG_867:g.33557T>G
NG_012347.1:g.33557T>G
NC_000023.10:g.131233494A>C
More... 		09/11/2013 splice donor variant pathogenic Infantile nystagmus, X-linked; Nystagmus 1, congenital, X- linked; NYSTAGMUS 1, INFANTILE, X-LINKED; Nystagmus, congenital motor, 1; NYSTAGMUS, INFANTILE IDIOPATHIC; NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FRMD7
Accession:XM_017029948
Location:INTRON

Gene Symbol:FRMD7
Accession:XM_017029947
Location:INTRON

Gene Symbol:FRMD7
Accession:NM_001306193
Location:INTRON

Gene Symbol:FRMD7
Accession:NM_194277
Location:INTRON

Gene Symbol:FRMD7
Accession:XM_017029949
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:17013395  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011531 CLINVAR
dbSNP (RS) rs1928435502 CLINVAR
MedGen C1839580 CLINVAR
NCBI Gene FRMD7 CLINVAR
OMIM 300628 CLINVAR
  310700 CLINVAR
OMIM Allele 300628.0003 CLINVAR