rs200002097 Rat Genome Database

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Variant: rs200002097 -  Homo sapiens

RGD ID: 28880773
RS ID: rs200002097
ClinVar ID: CV891028
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYBA4  CRYBB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 27,008,043
GRCh38 22 26,612,079
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001887.4:c.292G>A
NG_009826.1:g.10949G>A
NC_000022.11:g.26612079C>T
NC_000022.10:g.27008043C>T
More... 		07/24/2020 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:NM_001887
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQGRRAEFSGEC
SNLADRGFDRVRSIIVSSGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
GSFPVLATEPPK*

Gene Symbol:CRYBB1
Accession:XM_011529899
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQGRRAEFSGEC
SNLADRGFDRVRSIIVSSGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
GSFPVLATEPPK*

Gene Symbol:CRYBA4
Accession:NM_001886
Location:INTRON

Gene Symbol:CRYBA4
Accession:XM_006724140
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001149422 CLINVAR
dbSNP (RS) rs200002097 CLINVAR
MedGen C3888124 CLINVAR
NCBI Gene CRYBA4 CLINVAR
  CRYBB1 CLINVAR
OMIM 123631 CLINVAR
  600929 CLINVAR
  611544 CLINVAR