RGD:11651850 Rat Genome Database

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Variant: RGD:11651850 -  Homo sapiens

RGD ID: 11651850
RS ID: rs886057110
ClinVar ID: CV336900
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYAA  LOC128316778  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 44,592,788
GRCh38 21 43,172,678
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009823.1:g.8648G>A
NC_000021.9:g.43172678G>A
NC_000021.8:g.44592788G>A
NM_000394.2:c.*398G>A
More... 		06/14/2016 3 prime utr variant uncertain significance CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; Cataract, autosomal recessive congenital 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRYAA
Accession:NM_001363766
Location:3UTRS;EXON

Gene Symbol:CRYAA
Accession:NM_000394
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301494 CLINVAR
dbSNP (RS) rs886057110 CLINVAR
MedGen C1858679 CLINVAR
NCBI Gene CRYAA CLINVAR
OMIM 123580 CLINVAR
  604219 CLINVAR