Genomic variant #0000003621

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.18602444A>T
Published as -
GERP 1.280
Segregation -
DB-ID CDKL5_000004
dbSNP ID rs61749700
Frequency -
Sources ; clinvar;
Reference 15499549
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CDKL5 NM_001037343.1 +/+ - 9/22 c.525A>T p.(Arg175Ser) possibly_damaging(0.849) missense_variant - deleterious(0)
CDKL5 NM_003159.2 +/+ - 9/22 c.525A>T p.(Arg175Ser) possibly_damaging(0.849) missense_variant - deleterious(0)


ClinVar @ MSeqDR

26536
MedGen:C1839333,OMIM:300672|MedGen:C2748910,Orphanet:ORPHA3095
Early infantile epileptic encephalopathy 2|Atypical Rett syndrome
HGVS variant names NC 000023.10:g.18602444A>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300203.0004|RettBASE (CDKL5):8|UniProtKB (protein):O76039#VAR 023561
Gene symbol:Gene id. CDKL5:6792
SO:0001583|missense variant
1
dbSNP ID 61749700
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs61749700X1860244418602444A/TOMIM phenotype variantsEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CM042956X1860244418602444HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available