RGD:28879793 Rat Genome Database

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Variant: RGD:28879793 -  Homo sapiens

RGD ID: 28879793
RS ID: rs752618205
ClinVar ID: CV890973
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYBB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 25,603,156
GRCh38 22 25,207,189
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_004067.1:p.Arg205Trp
NM_004076.5:c.613C>T
NG_009828.1:g.12332C>T
NC_000022.11:g.25207189C>T
More... 		01/13/2018 missense variant uncertain significance Cataract 22; CATARACT 22, MULTIPLE TYPES, AUTOSOMAL DOMINANT; CATARACT 22, NUCLEAR, AUTOSOMAL RECESSIVE; Cataract, congenital nuclear, autosomal recessive 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRYBB3
Accession:NM_004076
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQHGAPEQAAAGKSHGDLGGSYKVILYELENFQGKRCELSAECPSLTDSLLEKVGSIQVESGPWLAFESRAFRGEQFV
LEKGDYPRWDAWSNSRDSDSLLSLRPLNIDSPHHKLHLFENPAFSGRKMEIVDDDVPSLWAHGFQDRVASVRAINGTWVG
YEFPGYRGRQYVFERGEYRHWNEWDASQPQLQSVRRIRDQKWHKWGRFPSS*

Gene Symbol:CRYBB3
Accession:XM_047441147
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQHGAPEQAAAGKSHGDLGGSYKVILYELENFQGKRCELSAECPSLTDSLLEKVGSIQVESGPWLAFESRAFRGEQFV
LEKGDYPRWDAWSNSRDSDSLLSLRPLNIDSPHHKLHLFENPAFSGRKMEIVDDDVPSLWAHGFQDRVASVRAINGTWVG
YEFPGYRGRQYVFERGEYRHWNEWDASQPQLQSVRRIRDQKWHKWGRFPSS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001149103 CLINVAR
dbSNP (RS) rs752618205 CLINVAR
MedGen C1857853 CLINVAR
NCBI Gene CRYBB3 CLINVAR
OMIM 123630 CLINVAR
  609741 CLINVAR