RGD:11547059 Rat Genome Database

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Variant: RGD:11547059 -  Homo sapiens

RGD ID: 11547059
RS ID: rs4276
ClinVar ID: CV257592
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYBA4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 27,021,425
GRCh38 22 26,625,461
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009825.1:g.8498A>G
NC_000022.11:g.26625461A>G
NC_000022.10:g.27021425A>G
NM_001886.2:c.159-20A>G
More... 		12/18/2021 intron variant benign AllHighlyPenetrant; CATARACT 23, LAMELLAR; Cataract 23, multiple types; Cataract, lamellar 2; Microphthalmia, isolated, with cataract 4; none provided
Disease Annotations     Click to see Annotation Detail View
cataract 23  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CRYBA4
Accession:XM_006724140
Location:INTRON

Gene Symbol:CRYBA4
Accession:NM_001886
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000247268 CLINVAR
  RCV000834834 CLINVAR
  RCV001660221 CLINVAR
dbSNP (RS) rs4276 CLINVAR
MedGen C3661900 CLINVAR
  C3808012 CLINVAR
  CN169374 CLINVAR
NCBI Gene CRYBA4 CLINVAR
OMIM 123631 CLINVAR
  610425 CLINVAR