RGD:11632226 Rat Genome Database

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Variant: RGD:11632226 -  Homo sapiens

RGD ID: 11632226
RS ID: rs747901309
ClinVar ID: CV351274
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYBA4  CRYBB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 27,012,247
GRCh38 22 26,616,283
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009826.1:g.6745G>A
NC_000022.11:g.26616283C>T
NC_000022.10:g.27012247C>T
NP_001878.1:p.Val13Met
More... 		06/14/2016 missense variant uncertain significance CATARACT 17, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE; CATARACT 17, PULVERULENT; Cataract, congenital nuclear, autosomal recessive 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRYBB1
Accession:XM_011529899
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAAKASASATLAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQGRRAEFSGEC
SNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
GSFPVLATEPPK*

Gene Symbol:CRYBB1
Accession:NM_001887
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAAKASASATLAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQGRRAEFSGEC
SNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
GSFPVLATEPPK*

Gene Symbol:CRYBA4
Accession:NM_001886
Location:INTRON

Gene Symbol:CRYBA4
Accession:XM_006724140
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000402249 CLINVAR
dbSNP (RS) rs747901309 CLINVAR
MedGen C3888124 CLINVAR
NCBI Gene CRYBA4 CLINVAR
  CRYBB1 CLINVAR
OMIM 123631 CLINVAR
  600929 CLINVAR
  611544 CLINVAR