RGD:15132720 Rat Genome Database

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Variant: RGD:15132720 -  Homo sapiens

RGD ID: 15132720
RS ID: rs754381417
ClinVar ID: CV786770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  RS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 18,662,601
GRCh38 X 18,644,481
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003159.3:c.2714-1526G>A
NM_000330.4:c.471C>T
NM_000330.3:c.471C>T
NG_008475.1:g.223877G>A
More... 		09/16/2020 intron variant likely benign 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: T to T (synonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQ
ITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDER
LNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

Gene Symbol:RS1
Accession:XM_047442337
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLGAREAGIGSQTPAEAKVTVRASPSLGKCPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAW
LSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRP
PIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

Gene Symbol:CDKL5
Accession:NM_001323289
Location:INTRON

Gene Symbol:CDKL5
Accession:NM_001037343
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 RCV000981432 CLINVAR
  RCV001271283 CLINVAR
dbSNP (RS) rs754381417 CLINVAR
MedGen C3661900 CLINVAR
  C3714753 CLINVAR
NCBI Gene CDKL5 CLINVAR
  RS1 CLINVAR
OMIM 300203 CLINVAR
  300839 CLINVAR
  312700 CLINVAR
SNOMED CT 86923008 CLINVAR