RGD:11592962 Rat Genome Database

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Variant: RGD:11592962 -  Homo sapiens

RGD ID: 11592962
RS ID: rs148133261
ClinVar ID: CV291517
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FYCO1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 45,962,533
GRCh38 3 45,921,041
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031955.1:g.79784C>A
NC_000003.12:g.45921041G>T
NC_000003.11:g.45962533G>T
NM_024513.4:c.*724C>A
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance CATARACT 18, AUTOSOMAL RECESSIVE; Cataract, autosomal recessive congenital 2
Disease Annotations     Click to see Annotation Detail View
cataract 18  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FYCO1
Accession:NM_024513
Location:3UTRS;EXON

Gene Symbol:FYCO1
Accession:XM_047448902
Location:3UTRS;EXON

Gene Symbol:FYCO1
Accession:NM_001386422
Location:3UTRS;EXON

Gene Symbol:FYCO1
Accession:NM_001386430
Location:3UTRS;EXON

Gene Symbol:FYCO1
Accession:NM_001386423
Location:3UTRS;EXON

Gene Symbol:FYCO1
Accession:NM_001386426
Location:3UTRS;EXON

Gene Symbol:FYCO1
Accession:NM_001386427
Location:3UTRS;EXON

Gene Symbol:FYCO1
Accession:NM_001386421
Location:3UTRS;EXON

Gene Symbol:FYCO1
Accession:NR_170107
Location:EXON;NON-CODING

Gene Symbol:FYCO1
Accession:NM_001386425
Location:INTRON

Gene Symbol:FYCO1
Accession:NM_001386429
Location:INTRON

Gene Symbol:FYCO1
Accession:NM_001386428
Location:INTRON

Gene Symbol:FYCO1
Accession:XM_047448903
Location:INTRON

Gene Symbol:FYCO1
Accession:NM_001386424
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000343780 CLINVAR
dbSNP (RS) rs148133261 CLINVAR
MedGen C1864908 CLINVAR
NCBI Gene FYCO1 CLINVAR
OMIM 607182 CLINVAR
  610019 CLINVAR