Individual #00000028

ID_report -
Reference PubMed: Bell 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases -
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     
0000000028 DNA SEQ-NG - - ALG1, AMPD1, ATP7B, BTD, CBS, CLN3, CYP21A2, FGG, GALC, GLB1, JAK3, NPHS1, RAG2, RPGRIP1L, SERPINA1, SLC26A2 17 LOVD-team, but with Curator vacancy



Variants

17 entries on 1 page. Showing entries 1 - 17.
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.115231254G>A g.114688633G>A - - AMPD1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma AMPD1, PRKAR1A +?/+? - - - - - 11 NM_000036.2:c.242C>T, NM_002734.4:c.1117T>C - - r.(?), r.(1117u>c) p.(Pro81Leu), p.(Tyr373His) - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown g.15677019G>A - - - BTD_000024 - - - - Germline - - - - - Gerard C.P. Schaafsma BTD ?/. - - - - - - NM_000060.2:c.133G>A - - r.(?) p.(Gly45Arg) - - - - - - - - - - - - - - - - - - - - - - -
3 Unknown 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.(=) - - - - - - - - - - - - - - - - - - - - - - -
4 Unknown g.155533035G>C g.154611883G>C - - FGG_000000 - - - - Germline - - - 0 - Gerard C.P. Schaafsma FGG ?/. - - - - - - NM_021870.2:c.323C>G - - r.(?) p.(Ala108Gly) - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.149361221A>T g.149981658A>T - - SLC26A2_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma SLC26A2 ?/. - - - - - 3 NM_000112.3:c.2065A>T - - r.(?) p.(Thr689Ser) - - - - - - - - - - - - - - - - - - - - - - -
6 Unknown g.32007849G>C g.32040072G>C - - CYP21A2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CYP21A2 ?/. - - - - - 7 NM_000500.7:c.806G>C - - r.(?) p.(Ser269Thr) - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.36614227T>A - - - RAG2_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma RAG2 ?/. - - - - - - NM_000536.2:c.1492A>T - - r.(?) p.(Lys498*) - - - - - - - - - - - - - - - - - - - - - - -
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.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GALC ./. - - - - - 5 NM_000153.3:c.550C>T - - r.(?) p.(Arg184Cys) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.5128790C>T g.5078789C>T - - ALG1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ALG1 ?/. - - - - - - NM_019109.4:c.773C>T - - r.(?) p.(Ser258Leu) - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.28488957C>A g.28477636C>A INTRON 14, IVS14-1G>T, CHR16:28396458G>T - CLN3_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 ?/. - - - - - - NM_001042432.1:c.1198-1G>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.28497286_28498251del g.28485965_28486930del INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL - CLN3_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma CLN3 ?/. - - - - - - NM_001042432.1:c.461-280_677+382del - - r.(?) p.(Gly154Alafs*29) - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.53653005G>C g.53619093G>C - - RPGRIP1L_000012 - - - - Germline - - - 0 - Gerard C.P. Schaafsma RPGRIP1L ?/. - - - - - 24 NM_015272.2:c.3548C>G - - r.(?) p.(Ala1183Gly) - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.17953950G>C g.17843141G>C - - JAK3_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma JAK3 ?/. - - - - - - NM_000215.3:c.452C>G - - r.(?) p.(Pro151Arg) - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36322601T>C g.35831699T>C - - NPHS1_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.3230A>G - - r.(?) p.(Asn1077Ser) - - - - - - - - - - - - - - - - - - - - - - -
19 Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NPHS1 ?/. - - - - - - NM_004646.3:c.349G>A - - r.(?) p.(Glu117Lys) - - - - - - - - - - - - - - - - - - - - - - -
Legend