RGD:8607051 Rat Genome Database

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Variant: RGD:8607051 -  Homo sapiens

RGD ID: 8607051
RS ID: rs2228387
ClinVar ID: CV53400
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYAB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 111,782,284
GRCh38 11 111,911,560
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000011.10:g.111911560C>T
NC_000011.9:g.111782284C>T
NM_001885.1:c.165G>A
NP_001876.1:p.Leu55=
More... 		01/30/2019 2kb upstream variant|neargene-5|synonymous variant benign all ages|infancy 1-9 / 100 000|<1 / 1 000 000 AllHighlyPenetrant; CATARACT 16, CONGENITAL LAMELLAR; CATARACT 16, POSTERIOR POLAR; CATARACT, CONGENITAL LAMELLAR; MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRYAB
Accession:NM_001289807
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSWFDTGLSEMRLEKDRFSVNLD
VKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRKQVSGPERTIP
ITREEKPAVTAAPKK*

Gene Symbol:CRYAB
Accession:NM_001885
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSWFDTGLSEMRLEKDRFSVNLD
VKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRKQVSGPERTIP
ITREEKPAVTAAPKK*

Gene Symbol:CRYAB
Accession:NM_001368245
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSWFDTGLSEMRLEKDRFSVNLD
VKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRKQVSGPERTIP
ITREEKPAVTAAPKK*

Gene Symbol:CRYAB
Accession:NM_001289808
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSWFDTGLSEMRLEKDRFSVNLD
VKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRKQVSGPERTIP
ITREEKPAVTAAPKK*

Gene Symbol:CRYAB
Accession:NM_001368246
Location:INTRON

Gene Symbol:CRYAB
Accession:NM_001330379
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:26467025   PMID:28492532   PMID:28690483  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037212 CLINVAR
  RCV000205646 CLINVAR
  RCV000244212 CLINVAR
  RCV000265252 CLINVAR
  RCV000323760 CLINVAR
  RCV000378467 CLINVAR
  RCV000991843 CLINVAR
dbSNP (RS) rs2228387 CLINVAR
MedGen C3554649 CLINVAR
  C3661900 CLINVAR
  C3808377 CLINVAR
  C5190691 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
  CN239446 CLINVAR
NCBI Gene CRYAB CLINVAR
OMIM 123590 CLINVAR
  613763 CLINVAR
  613869 CLINVAR
  615184 CLINVAR