Screening #0000064753

Individual ID 00064618
Template DNA
Technique SEQ-NG-I
Tissue -
Remarks -
Variants found? 1
Owner name Henk van Kranen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CDKL5 cyclin-dependent kinase-like 5 X p22 1 253 186 2020-08-06 AS, EIEE-2, ID
FOXG1 forkhead box G1 14 q11-q13 1 131 93 2020-08-06 ID, Rett syndrome, congenital variant
MECP2 methyl CpG binding protein 2 (Rett syndrome) X q28 2 4919 909 2020-08-06 AS, AUTSX-3, ID, MRX13, MRXSL, RTT, encephalopathy, neonatal, severe
MEF2C myocyte enhancer factor 2C 5 q14 1 40 39 2020-08-06 ID, MRD20
NTNG1 netrin G1 1 p13.2-p13.1 1 7 6 2020-08-06 -
TCF4 transcription factor 4 18 q21.1 1 250 168 2020-08-06 FECD-3, ID, PTHS



Variants found

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Unknown +/. - pathogenic g.153297719G>A g.154032268G>A - - MECP2_000165 - PubMed: Olson 2015 - - Unknown - - - 0 - Henk van Kranen MECP2 - - - - - 3 NM_004992.3:c.316C>T - r.(?) p.(Arg106Trp) - - - - - - - - - - - - - - - - - - - -
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