rs1114167433 Rat Genome Database

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Variant: rs1114167433 -  Homo sapiens

RGD ID: 12911971
RS ID: rs1114167433
ClinVar ID: CV417543
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYBA4  CRYBB1  LOC127895675  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 27,003,898
GRCh38 22 26,607,934
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_009826.1:g.15094C>A
NC_000022.11:g.26607934G>T
NC_000022.10:g.27003898G>T
NP_001878.1:p.Ser129Arg
More... 		06/05/2017 missense variant pathogenic infancy 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:CRYBA4
Accession:XM_006724140
Location:5UTRS;EXON

Gene Symbol:CRYBB1
Accession:XM_011529899
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQGRRAEFSGEC
SNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSRSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
GSFPVLATEPPK*

Gene Symbol:CRYBB1
Accession:NM_001887
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQGRRAEFSGEC
SNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSRSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
GSFPVLATEPPK*

Gene Symbol:CRYBA4
Accession:NM_001886
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21972112  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000490646 CLINVAR
dbSNP (RS) rs1114167433 CLINVAR
MedGen C3888124 CLINVAR
NCBI Gene CRYBA4 CLINVAR
  CRYBB1 CLINVAR
OMIM 123631 CLINVAR
  600929 CLINVAR
  611544 CLINVAR
OMIM Allele 600929.0004 CLINVAR