Screening #0000019915

Individual ID 00019922
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 4
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
LCT lactase 2 q21 1 51 41 2019-07-02 lactase def., lactose intol.
MCM6 minichromosome maintenance complex component 6 2 q14-q21 1 35 6 2014-09-18 lactose intol.



Variants found

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
2 Both (homozygous) -?/. g.136608646G>A g.135851076G>A LCT -13910C/T - MCM6_000001 - PubMed: Enattah 2002, OMIM:var0001 - rs4988235 Germline yes 13/45 controls - 0 - Johan den Dunnen MCM6 - - - - - 13i NM_005915.5:c.1917+326C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) +?/. g.136608646G>A g.135851076G>A -13910C/T - MCM6_000001 predicted to disrupt transcription factor AP-2 binding site, possible long-range cis-transcriptional effect on developmental stage–specific regulation LCT PubMed: Enattah 2002, OMIM:var0001 - rs4988235 Germline yes 13/45 controls - 0 - Johan den Dunnen LCT - - - - - _1 NM_002299.2:c.-13907C>T - likely pathogenic r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -?/. g.136616754C>T g.135859184C>T LCT -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 13/45 controls - 0 - Johan den Dunnen MCM6 - - - - - 9i NM_005915.5:c.1362+117G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Both (homozygous) -?/. g.136616754C>T g.135859184C>T -22018G/A - MCM6_000002 - PubMed: Enattah 2002, OMIM:var0002 - rs182549 Germline yes 13/45 controls - 0 - Johan den Dunnen LCT - - - - - _1 NM_002299.2:c.-22015G>A - likely benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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