Full data view for gene PET100

Information The variants shown are described using the NM_001171155.1 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 1 c.3G>C r.(?) p.Met1? Both (homozygous) - pathogenic g.7694722G>C g.7629836G>C - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline yes - MboI+ - - DNA arraySNP, SEQ-NG-I - - LS, MC4DN 24462369-A1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected M yes Australia Lebanese 00y08m - - - 1 Sze Chern Lim
+/+ 1 c.3G>C r.(?) p.Met1? Both (homozygous) - pathogenic g.7694722G>C g.7629836G>C - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline yes - MboI+ - - DNA arraySNP, SEQ-NG-I - - LS, MC4DN 24462369-B1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected (first 4 children in the family died within the first year of life without clear diagnoses but all had developmental delay and seizures.) M yes Australia Lebanese 00y08m - - - 1 Sze Chern Lim
+/+ 1 c.3G>C r.(?) p.Met1? Both (homozygous) - pathogenic g.7694722G>C g.7629836G>C - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline - - MboI+ - - DNA arraySNP, SEQ-NG-I - - LS, MC4DN 24462369-C1 PubMed: Lim 2014 2 generation family, non-consanguineous parents, 1 affected F no Australia Lebanese >15y06m - - - 1 Sze Chern Lim
+/+ 1 c.3G>C r.(?) p.Met1? Both (homozygous) - pathogenic g.7694722G>C g.7629836G>C - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline yes - MboI+ - - DNA arraySNP, SEQ-NG-I - - LS, MC4DN 24462369-D1 PubMed: Lim 2014 2 generation family, consanguineous parents, 2 affected siblings M yes Australia Lebanese >24y - - - 2 Sze Chern Lim
+/+ 1 c.3G>C r.(?) p.Met1? Both (homozygous) - pathogenic g.7694722G>C g.7629836G>C - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline yes - MboI+ - - DNA PCRdig - - LS, MC4DN 24462369-D2 PubMed: Lim 2014 2 generation family, consanguineous parents, 2 affected siblings M yes Australia Lebanese 00y07m - - - 1 Sze Chern Lim
+/+ 1 c.3G>C r.(?) p.Met1? Both (homozygous) - pathogenic g.7694722G>C g.7629836G>C - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline yes - MboI+ - - DNA PCRdig - - LS, MC4DN 24462369-E1 PubMed: Lim 2014 2 generation family, non-consanguineous parents, 2 affected siblings M no Australia Lebanese 16y - - - 2 Sze Chern Lim
+/+ 1 c.3G>C r.(?) p.Met1? Unknown - pathogenic g.7694722G>C g.7629836G>C - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline yes - MboI+ - - DNA arraySNP, SEQ-NG-I - - LS, MC4DN 24462369-E2 PubMed: Lim 2014 2 generation family, non-consanguineous, 2 affected siblings M no Australia Lebanese >27y - - - 1 Sze Chern Lim
+/+ 1 c.3G>C r.(?) p.Met1? Both (homozygous) - pathogenic g.7694722G>C g.7629836G>C - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline - - MboI+ - - DNA arraySNP, SEQ-NG-I - - LS, MC4DN 24462369-F1 PubMed: Lim 2014 2 generation family, consanguineous parents M yes Australia Lebanese >09y08m - - - 1 Sze Chern Lim
+/+ 1 c.3G>C r.(?) p.Met1? Both (homozygous) - pathogenic g.7694722G>C g.7629836G>C - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline yes - MboI+ - - DNA MS - - LS, MC4DN 24462369-G1 PubMed: Lim 2014 2 generation family, consanguineous parents F yes Australia Lebanese 00y12m - - - 1 Sze Chern Lim
+/+ 1 c.3G>C r.(?) p.Met1? Both (homozygous) - pathogenic g.7694722G>C g.7629836G>C - - PET100_000001 - PubMed: Lim 2014 ClinVar-125441 rs587777839 Germline yes - MboI+ - - DNA MS - - LS, MC4DN 24462369-H1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected child, 3 unaffected chlidren M yes Australia Lebanese 03y06m - - - 1 Sze Chern Lim
?/. - c.23_27+4del r.spl? p.? Unknown - VUS g.7694742_7694750del g.7629856_7629864del PET100(NM_001171155.1):c.23_27+4delTTCGGGTCA - PET100_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27G>A r.(?) p.(Arg9=) Unknown - likely benign g.7694746G>A g.7629860G>A PET100(NM_001171155.1):c.27G>A (p.(=)) - PET100_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74A>G r.(?) p.(Asn25Ser) Unknown - VUS g.7695505A>G g.7630619A>G PET100(NM_001171155.1):c.74A>G (p.N25S) - PET100_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.82G>A r.(?) p.(Glu28Lys) Unknown - benign g.7695513G>A g.7630627G>A PET100(NM_001171155.1):c.82G>A (p.E28K) - PET100_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82G>A r.(?) p.(Glu28Lys) Parent #1 - likely benign g.7695513G>A g.7630627G>A - - PET100_000005 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4134804 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.115-3C>G r.spl? p.? Unknown - VUS g.7695706C>G g.7630820C>G PET100(NM_001171155.1):c.115-3C>G - PET100_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.142C>T r.(?) p.Gln48* Unknown - pathogenic g.7696362C>T g.7631476C>T - - PET100_000002 - PubMed: Oláhová 2015 ClinVar-128250 rs587779779 Germline yes - - - - DNA SEQ-NG-I - - MC4DN 25293719-73387 PubMed: Oláhová 2015 2 generation family, consanguineous parents, 1 affected child F yes United Kingdom (Great Britain) Pakistani 00y00m02d - - - 1 Sze Chern Lim
-?/. - c.*236C>T r.(=) p.(=) Unknown - likely benign g.7696678C>T g.7631792C>T PCP2(NM_001271830.1):c.260G>A (p.(Arg87Gln)) - PET100_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5608G>A r.(=) p.(=) Unknown - likely benign g.7702050G>A g.7637164G>A STXBP2(NM_001272034.1):c.15G>A (p.G5=) - STXBP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7152C>T r.(=) p.(=) Unknown - likely benign g.7703594C>T - STXBP2(NM_001272034.2):c.38-18C>T - PET100_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7163C>T r.(=) p.(=) Unknown - benign g.7703605C>T g.7638719C>T STXBP2(NM_006949.2):c.38-7C>T - STXBP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7181G>A r.(=) p.(=) Unknown - VUS g.7703623G>A g.7638737G>A STXBP2(NM_001272034.1):c.49G>A (p.G17R) - PET100_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7540C>T r.(=) p.(=) Unknown - benign g.7703982C>T g.7639096C>T STXBP2(NM_001272034.1):c.165C>T (p.I55=), STXBP2(NM_001272034.2):c.165C>T (p.I55=) - PET100_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7540C>T r.(=) p.(=) Unknown - benign g.7703982C>T - STXBP2(NM_001272034.1):c.165C>T (p.I55=), STXBP2(NM_001272034.2):c.165C>T (p.I55=) - PET100_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7556C>T r.(=) p.(=) Unknown - likely benign g.7703998C>T - STXBP2(NM_001272034.2):c.169+12C>T - PET100_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8269C>T r.(=) p.(=) Unknown - likely benign g.7704711C>T g.7639825C>T STXBP2(NM_001272034.2):c.246+18C>T - STXBP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8312_*8313del r.(=) p.(=) Unknown - benign g.7704754_7704755del g.7639868_7639869del STXBP2(NM_001272034.2):c.246+61_246+62delGT - STXBP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8585_*8586del r.(=) p.(=) Unknown - benign g.7705027_7705028del g.7640141_7640142del STXBP2(NM_001272034.2):c.246+334_246+335delTG - STXBP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8797_*8798dup r.(=) p.(=) Unknown - benign g.7705239_7705240dup g.7640353_7640354dup STXBP2(NM_001272034.2):c.247-345_247-344dupTG - PET100_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8865C>T r.(=) p.(=) Unknown - benign g.7705307C>T g.7640421C>T STXBP2(NM_001272034.2):c.247-277C>T - STXBP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*9192del r.(?) p.(=) Unknown - pathogenic g.7705634del - STXBP2(NM_006949.4):c.264delC (p.D90Tfs*29) - PET100_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9240C>T r.(=) p.(=) Unknown - likely benign g.7705682C>T g.7640796C>T STXBP2(NM_001272034.2):c.345C>T (p.I115=) - STXBP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9272G>C r.(=) p.(=) Unknown - likely benign g.7705714G>C g.7640828G>C STXBP2(NM_001272034.2):c.358+19G>C - STXBP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9376C>T r.(=) p.(=) Unknown - VUS g.7705818C>T - STXBP2(NM_001272034.1):c.391C>T (p.R131C) - PET100_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9457G>C r.(=) p.(=) Unknown - likely benign g.7705899G>C - STXBP2(NM_001272034.1):c.462+10G>C - PET100_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.