RGD:155959193 Rat Genome Database

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Variant: RGD:155959193 -  Homo sapiens

RGD ID: 155959193
ClinVar ID: CV2183315
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYBA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 27,579,176
GRCh38 17 29,252,158
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008037.1:g.10302G>A
NC_000017.11:g.29252158G>A
NC_000017.10:g.27579176G>A
NP_005199.2:p.Ala104Thr
More... 		06/22/2022 missense variant uncertain significance CATARACT 10, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; Cataract, congenital zonular, with sutural opacities
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRYBA1
Accession:NM_005208
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METQAEQQELETLPTTKMAQTNPTPGSLGPWKITIYDQENFQGKRMEFTSSCPNVSERSFDNVRSLKVESGAWIGYEHTS
FCGQQFILERGEYPRWDAWSGSNTYHIERLMSFRPICSANHKESKMTIFEKENFIGRQWEISDDYPSLQAMGWFNNEVGS
MKIQSGAWVCYQYPGYRGYQYILECDHHGGDYKHWREWGSHAQTSQIQSIRRIQQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003032856 CLINVAR
MedGen C1833229 CLINVAR
NCBI Gene CRYBA1 CLINVAR
OMIM 123610 CLINVAR
  600881 CLINVAR