Individual #00000026

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     
0000000026 DNA SEQ-NG - - AMPD1, ATP7B, CBS, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, 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.156848918C>T g.156879126C>T - - NTRK1_000163 - - - - Germline - - - - - Gerard C.P. Schaafsma NTRK1 ?/. - - - - - 15 NM_002529.3:c.1810C>T - - r.(?) p.(His604Tyr) - - - - - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) g.33138549G>A g.33097057G>A - - GLB1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GLB1, TMPPE ./. - - - - - - NM_000404.2:c.29C>T, NM_001039770.2:c.-447C>T - - r.(?), r.(=) p.(Pro10Leu), p.(=) - - - - - - - - - - - - - - - - - - - - - - -
5 Unknown g.73992881A>G g.74697056A>G - - HEXB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma HEXB ?/. - - - - - 5 NM_000521.3:c.619A>G - - r.(?) p.(Ile207Val) - - - - - - - - - - - - - - - - - - - - - - -
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.18122506G>A g.18122275G>A - - NHLRC1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma NHLRC1 ?/. - - - - - - NM_198586.2:c.332C>T - - r.(?) p.(Pro111Leu) - - - - - - - - - - - - - - - - - - - - - - -
7 Parent #1 g.99367788C>T - 13908G>A (R130Q) - CYP3A4_000050 Enzime activity in_vitro: Decrease PubMed: Eiselt 2001 - rs72552799 In vitro (cloned) - - - 0 - Julia Lopez CYP3A4 +/+ - - - - - 5 NM_017460.5:c.389G>A CYP3A4*8 - r.(?) p.(Arg130Gln) - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.37424861del g.37424864del - - GRHPR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma GRHPR ?/. - - - - - - NM_012203.1:c.103del - - r.(?) p.(Asp35Thrfs*11) - - - - - - - - - - - - - - - - - - - - - - -
9 Unknown g.103046765G>C - - - INVS_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma INVS ?/. - - - - - 13 NM_014425.2:c.1948G>C - - r.(?) p.(Ala650Pro) - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.68562328C>T g.68794860C>T - - CPT1A_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma CPT1A ?/. - - - - - - NM_001876.3:c.823G>A - - r.(?) p.(Ala275Thr) - - - - - - - - - - - - - - - - - - - - - - -
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.94844843T>G g.94378506T>G - - SERPINA1_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.1200A>C - - r.(?) p.(Glu400Asp) - - - - - - - - - - - - - - - - - - - - - - -
14 Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma SERPINA1 ?/. - - - - - - NM_001127701.1:c.374G>A - - r.(?) p.(Arg125His) - - - - - - - - - - - - - - - - - - - - - - -
16 Unknown g.3293407T>C g.3243407T>C - - MEFV_000008 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - 10 NM_000243.2:c.2080A>G - - r.(?) p.(Met694Val) - - - - - - - - - - - - - - - - - - - - - - -
16 Both (homozygous) g.3304463C>T g.3254463C>T - - MEFV_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma MEFV ?/. - - - - - 2 NM_000243.2:c.605G>A - - r.(?) p.(Arg202Gln) - - - - - - - - - - - - - - - - - - - - - - -
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) - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma ETFB ?/. - - - - - - NM_001014763.1:c.734C>T, NM_001985.2:c.461C>T - - r.(?) p.(Thr245Met), p.(Thr154Met) - - - - - - - - - - - - - - - - - - - - - - -
X Unknown g.153296094_153296119del g.154030643_154030668del exon 3, c.1160_1185del, P387fs, CHRX:152949313_152949288del - MECP2_000012 - - - - Germline - - - 0 - Gerard C.P. Schaafsma MECP2 +?/. - - - - - 3, 4 NM_001110792.1:c.1196_1221del, NM_004992.3:c.1160_1185del - - r.(?) p.(Pro399Leufs*9), p.(Pro387Leufs*9) - - - - - - - - - - - - - - - - - - - - - - -
Legend