RGD:26904700 Rat Genome Database

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Variant: RGD:26904700 -  Homo sapiens

RGD ID: 26904700
RS ID: rs1386256334
ClinVar ID: CV849871
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKL5  RS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 18,665,321
GRCh38 X 18,647,201
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+1111G>A
NM_003159.3:c.2797+1111G>A
NG_008659.3:g.35248C>T
NM_000330.4:c.316C>T
More... 		12/30/2019 intron variant pathogenic|likely pathogenic none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RS1
Accession:XM_047442337
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLGAREAGIGSQTPAEAKVTVRASPSLGKCPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSKGFGCAW
LSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRP
PIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

Gene Symbol:RS1
Accession:NM_000330
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQ
ITCSNPEQYVGWYSSWTANKARLNSKGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDER
LNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA*

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:9618178   PMID:17172462   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001055311 CLINVAR
  RCV001075251 CLINVAR
dbSNP (RS) rs1386256334 CLINVAR
MedGen C0854723 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKL5 CLINVAR
  RS1 CLINVAR
OMIM 300203 CLINVAR
  300839 CLINVAR
SNOMED CT 314407005 CLINVAR