RGD:11632085 Rat Genome Database

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Variant: RGD:11632085 -  Homo sapiens

RGD ID: 11632085
RS ID: rs112855370
ClinVar ID: CV350768
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYAA  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 44,592,483
GRCh38 21 43,172,373
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.8343T>G
NC_000021.9:g.43172373T>G
NC_000021.8:g.44592483T>G
NM_000394.2:c.*93T>G
More... 		07/27/2018 3 prime utr variant benign|likely benign CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; Cataract, autosomal recessive congenital 1; none provided
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 RCV000398042 CLINVAR
  RCV001618602 CLINVAR
dbSNP (RS) rs112855370 CLINVAR
MedGen C1858679 CLINVAR
  C3661900 CLINVAR
NCBI Gene CRYAA CLINVAR
OMIM 123580 CLINVAR
  604219 CLINVAR