Individual #00000019

ID_report -
Reference PubMed: Almomani 2011
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases autism, BMD/DMD, TSC
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     
0000000019 DNA SEQ-NG - - AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 44 LOVD-team, but with Curator vacancy



Variants

44 entries on 1 page. Showing entries 1 - 44.
Legend  

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     
1 Both (homozygous) ?/. g.220322898_220322899insTGT g.220149556_220149557insTGT c.*866+827insAAC - RAB3GAP2_000001 - PubMed: Almomani 2011 - - Germline - - - - - Gerard C.P. Schaafsma RAB3GAP2 - - - - - - NM_012414.3:c.*1694_*1695insACA - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Parent #1 ?/. g.200245245C>G g.199380522C>G - - SATB2_000001 - PubMed: Almomani 2011 - rs1348813 Germline - - - 0 - Gerard C.P. Schaafsma SATB2 - - - - - - NM_001172509.1:c.474-35G>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
3 Both (homozygous) ?/. g.3192927T>G g.3151243T>G - - CRBN_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma CRBN - - - - - - NM_016302.3:c.1149-198A>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
3 Parent #1 ?/. g.12626516G>A g.12585017G>A - - RAF1_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma RAF1 - - - - - - NM_002880.3:c.1669-36C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -?/. g.123664427G>C g.122743272G>C - - BBS12_000040 - PubMed: Almomani 2011 - rs13135766 Germline - - - 0 - Gerard C.P. Schaafsma BBS12 - - - - - 3 NM_001178007.1:c.1380G>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 ?/. g.138357211A>G g.139021522A>G - - SIL1_000002 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma SIL1 - - - - - - NM_001037633.1:c.646-230T>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 ?/. g.138386859C>A g.139051170C>A - - SIL1_000003 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma SIL1 - - - - - - NM_001037633.1:c.245-124G>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
5 Parent #1 ?/. g.138456994G>A g.139121305G>A - - SIL1_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma SIL1 - - - - - - NM_001037633.1:c.106-132C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
5 Both (homozygous) ?/. g.176639304C>G g.177212303C>G - - NSD1_000112 - PubMed: Almomani 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma NSD1 - - - - - 5i NM_022455.4:c.3796+108C>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. g.176721272G>C g.177294271G>C - - NSD1_000053 - PubMed: Almomani 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma NSD1 - - - - - 23 NM_022455.4:c.6903G>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
8 Parent #1 ?/. g.6303025G>A - - - MCPH1_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma MCPH1 - - - - - - NM_024596.2:c.1782G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/. g.33135238G>A g.33135240G>A - - B4GALT1_000001 - PubMed: Almomani 2011 - - Germline - - - - - Gerard C.P. Schaafsma B4GALT1 - - - - - - NM_001497.3:c.597C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) ?/. g.123169718C>G - - - CDK5RAP2_000003 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma CDK5RAP2 - - - - - - NM_018249.4:c.4727-192G>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) ?/. g.123308276T>C - - - CDK5RAP2_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma CDK5RAP2 - - - - - - NM_018249.4:c.307-208A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) ?/. g.123330813T>C - - - CDK5RAP2_000002 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma CDK5RAP2 - - - - - - NM_018249.4:c.128-147A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Both (homozygous) -?/. g.134382111G>A g.131506724G>A - - POMT1_000140 - PubMed: Almomani 2011 - rs10448341 Germline - - - 0 - Gerard C.P. Schaafsma POMT1 - - - - - 4i NM_007171.3:c.280+271G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
9 Unknown ?/. g.135771333del g.132895946delA *289delT - TSC1_000639 - PubMed: Almomani 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma TSC1 - - - - - 23 NM_000368.4:c.*289del - VUS r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
11 Unknown ?/. g.71155265C>T g.71444219C>T - - DHCR7_000185 - PubMed: Almomani 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma DHCR7 - - - - - 3i NM_001360.2:c.99-4G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
12 Parent #1 -?/. g.25362552A>C g.25209618A>C - - KRAS_000010 - PubMed: Almomani 2011 - rs712 Germline - - - 0 - Gerard C.P. Schaafsma KRAS - - - - - 5 NM_004985.3:c.*177T>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
12 Unknown ?/. g.52162823C>T - - - SCN8A_000006 - PubMed: Almomani 2011 - - Germline - - - - - Gerard C.P. Schaafsma SCN8A - - - - - - NM_014191.2:c.3076C>T - - r.(?) p.(Arg1026Cys) - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) ?/. g.52163248A>G - - - SCN8A_000002 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma SCN8A - - - - - - NM_014191.2:c.3372+129A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) -?/. g.52163322G>C - - - SCN8A_000009 - PubMed: Almomani 2011 - rs303809 Germline - - - 0 - Gerard C.P. Schaafsma SCN8A - - - - - 17i NM_014191.2:c.3372+203G>C - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) ?/. g.52183485C>T - - - SCN8A_000003 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma SCN8A - - - - - - NM_014191.2:c.4419+283C>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. g.25458233_25458235del - - - CENPJ_000001 - PubMed: Almomani 2011 - - Germline - - - - - Gerard C.P. Schaafsma CENPJ - - - - - - NM_018451.3:c.3704-14_3704-12del - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. g.31821256C>G g.31247119C>G - - B3GLCT_000010 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT - - - - - 5i NM_194318.3:c.347+20C>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) ?/. g.31821992T>C g.31247855T>C - - B3GLCT_000039 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT - - - - - 6 NM_194318.3:c.348T>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. g.31848823A>G g.31274686A>G - - B3GLCT_000016 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT - - - - - 9i NM_194318.3:c.780+58A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. g.31850989G>A g.31276852G>A - - B3GLCT_000018 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT - - - - - 10i NM_194318.3:c.850+81G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) ?/. g.31851059A>G g.31276922A>G - - B3GLCT_000044 - PubMed: Almomani 2011 - rs1409373 Germline - - - 0 - Johan den Dunnen B3GLCT - - - - - 10i NM_194318.3:c.850+151A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. g.31903834G>T g.31329697G>T - - B3GLCT_000049 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT - - - - - 15 NM_194318.3:c.*29G>T - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown ?/. g.31903841A>G g.31329704A>G - - B3GLCT_000021 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen B3GLCT - - - - - 15 NM_194318.3:c.*36A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Parent #1 ?/. g.31905641G>A g.31331504G>A - - B3GLCT_000050 - PubMed: Almomani 2011 - rs912603 Germline - - - 0 - Johan den Dunnen B3GLCT - - - - - 15 NM_194318.3:c.*1836G>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
13 Both (homozygous) ?/. g.45524083A>C g.44949948A>C - - NUFIP1_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma NUFIP1 - - - - - - NM_012345.2:c.1022-110T>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
22 Both (homozygous) -?/. g.41514155G>A g.41118151G>A - - EP300_000022 - PubMed: Almomani 2011 dbSNP - - Germline - - - 0 - Johan den Dunnen EP300 - - - - - 2i NM_001429.3:c.729+330G>A - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
22 Both (homozygous) -?/. g.41537234G>T g.41141230G>T - - EP300_000021 - PubMed: Almomani 2011 - rs6002267 Germline - - - 0 - Johan den Dunnen EP300 - - - - - 10i NM_001429.3:c.2053+8G>T - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
22 Unknown -?/. g.41575007_41575009del g.41179003_41179005del - - EP300_000023 - PubMed: Almomani 2011 - - Germline - - - 0 - Johan den Dunnen EP300 - - - - - 31 NM_001429.3:c.*47_*49del - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
22 Parent #1 ?/. g.50297435T>C g.49903787T>C - - ALG12_000039 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma ALG12 - - - - - - NM_024105.3:c.*51A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Both (homozygous) -?/. g.28807748A>G g.28789631A>G - - IL1RAPL1_000012 - PubMed: Almomani 2011 - rs6526807 Germline ? - - 0 - Gerard C.P. Schaafsma IL1RAPL1 - - - - - 2i NM_014271.3:c.82+206A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Both (homozygous) -?/. g.28807769T>C g.28789652T>C - - IL1RAPL1_000011 - PubMed: Almomani 2011 - rs12690144 Germline ? - - 0 - Gerard C.P. Schaafsma IL1RAPL1 - - - - - 2i NM_014271.3:c.82+227T>C - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Both (homozygous) ?/. g.53227343A>G g.53198161A>G - - KDM5C_000005 - PubMed: Almomani 2011 - rs2182285 Germline - - - 0 - Gerard C.P. Schaafsma KDM5C - - - - - 17i NM_004187.3:c.2517-285T>C - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
X Both (homozygous) ?/. g.70341169A>C g.71121319A>C - - MED12_000024 - PubMed: Almomani 2011 - - Germline - - - 0 - Gerard C.P. Schaafsma MED12 - - - - - 5i NM_005120.2:c.736-8A>C - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
X Both (homozygous) ?/. g.70352417T>C g.71132567T>C - - MED12_000021 - PubMed: Almomani 2011 - rs10521349 Germline - - - 0 - Gerard C.P. Schaafsma MED12 - - - - - 31i NM_005120.2:c.4415+29T>C - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
X Both (homozygous) ?/. g.148049264T>G - - - AFF2_000089 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma AFF2 - - - - - - NM_002025.3:c.3267+42T>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Both (homozygous) ?/. g.148080095A>G - - - AFF2_000079 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma AFF2 - - - - - - NM_002025.3:c.*7233A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
Legend