Individual #00000011

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases autism, CF
Owner name LOVD-team, but with Curator vacancy


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000011 DNA SEQ-NG - - ACADM, ADA, ATP7B, ATR, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, SERPINA1, SMPD1 12 LOVD-team, but with Curator vacancy



Variants

12 entries on 1 page. Showing entries 1 - 12.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
1 Unknown g.97981395T>C g.97515839T>C - - DPYD_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma DPYD, PRKAR1A +?/+? - - - - - 11 NM_000110.3:c.1627A>G, NM_002734.4:c.1102C>T - - r.(?) p.(Ile543Val), p.(Arg368*) - - - - - - - - - - - - - - - - - - - - - - -
2 Unknown g.189904086A>G - COL5A2:c.3837T>C (=) - COL5A2_000115 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC COL5A2 -?/. - - - - - - NM_000393.3:c.3837T>C - likely benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000061 - - - - Germline - - - 0 - Gerard C.P. Schaafsma GLB1, TMPPE ./. - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.142242921C>A g.142524079C>A - - ATR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATR ?/. - - - - - - NM_001184.3:c.4066G>T - - r.(?) p.(Glu1356*) - - - - - - - - - - - - - - - - - - - - - - -
6 Both (homozygous) g.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.6415463G>A - - - SMPD1_000101 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SMPD1 ?/. - - - - - - NM_000543.3:c.1522G>A - - r.(?) p.(Gly508Arg) - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68705674C>A g.68938206C>A - - IGHMBP2_000003 - - - - Germline - - - 0 - Gerard C.P. Schaafsma IGHMBP2 ?/. - - - - - 14 NM_002180.2:c.2636C>A - - r.(?) p.(Thr879Lys) - - - - - - - - - - - - - - - - - - - - - - -
13 Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ATP7B ./. - - - - - - NM_000053.3:c.3419T>C - - r.(?) p.(Val1140Ala) - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94844866G>A g.94378529G>A - - SERPINA1_000006 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1177C>T - - r.(?) p.(Pro393Ser) - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.710T>C - - r.(?) p.(Val237Ala) - - - - - - - - - - - - - - - - - - - - - - -
20 Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - Gerard C.P. Schaafsma ADA ?/. - - - - - - NM_000022.2:c.239A>G - - r.(?) p.(Lys80Arg) - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.(31525571_31645789)_(31792310_31838091)del - exon 51-55del, ChrX:31702000_31555711del - DMD_015155 - PubMed: Bell 2011 - - Unknown - - - 0 - Johan den Dunnen DMD +/. - - - - - 50i_55i NM_004006.2:c.(7309+1_7310-1)_(8217+1_8218-1)del - - r.del p.fs? - - - - - - - - - - - - - - - - - - - - - - -
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