RGD:126759819 Rat Genome Database

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Variant: RGD:126759819 -  Homo sapiens

RGD ID: 126759819
RS ID: rs143682861
ClinVar ID: CV999711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  RS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 18,665,317
GRCh38 X 18,647,197
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001037343.2:c.2797+1107C>T
NM_003159.3:c.2797+1107C>T
LRG_702:g.35252G>A
NG_008475.1:g.226593C>T
More... 		09/08/2020 intron variant uncertain significance none provided; Retinoschisis juvenile X chromosome-linked; X-Linked Juvenile Retinoschisis; X-linked retinoschisis; XJR
Disease Annotations     Click to see Annotation Detail View
retinoschisis  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:RS1
Accession:NM_000330
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQ
ITCSNPEQYVGWYSSWTANKARLNSQVFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDER
LNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

Gene Symbol:RS1
Accession:XM_047442337
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLGAREAGIGSQTPAEAKVTVRASPSLGKCPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQVFGCAW
LSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRP
PIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

Gene Symbol:CDKL5
Accession:NM_001037343
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_001323289
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_003159
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001309131 CLINVAR
  RCV001830250 CLINVAR
dbSNP (RS) rs143682861 CLINVAR
MedGen C3661900 CLINVAR
  C3714753 CLINVAR
NCBI Gene CDKL5 CLINVAR
  RS1 CLINVAR
OMIM 300203 CLINVAR
  300839 CLINVAR
  312700 CLINVAR
SNOMED CT 86923008 CLINVAR