RGD:11586168 Rat Genome Database

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Variant: RGD:11586168 -  Homo sapiens

RGD ID: 11586168
RS ID: rs1994492
ClinVar ID: CV294727
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FYCO1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 45,960,646
GRCh38 3 45,919,154
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.81671A>G
NC_000003.12:g.45919154T>C
NC_000003.11:g.45960646T>C
NM_024513.4:c.*2611A>G
More... 		06/14/2016 3 prime utr variant benign 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_001386427
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_001386422
Location:3UTRS;EXON

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

Gene Symbol:FYCO1
Accession:NM_024513
Location:3UTRS;EXON

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

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

Gene Symbol:FYCO1
Accession:NM_001386425
Location:INTRON

Gene Symbol:FYCO1
Accession:NM_001386424
Location:INTRON

Gene Symbol:FYCO1
Accession:NM_001386428
Location:INTRON

Gene Symbol:FYCO1
Accession:NM_001386429
Location:INTRON

Gene Symbol:FYCO1
Accession:XM_047448903
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000286134 CLINVAR
dbSNP (RS) rs1994492 CLINVAR
MedGen C1864908 CLINVAR
NCBI Gene FYCO1 CLINVAR
OMIM 607182 CLINVAR
  610019 CLINVAR