Full data view for gene ALDH7A1

Information The variants shown are described using the NM_001182.4 transcript reference sequence.

443 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

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     
+?/. - c.(695+1_696-1)_(1200+1_1201-1 r.(?) p.(?) Unknown - likely pathogenic g.? g.? ALDH7A1(NM_001182.4):c.1279G>C(p.E427Q)/CDS8-13 deletion - RAD50_000000 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 190 - - - DNA SEQ-NG-I blood - ? WHP90 PubMed: Sun 2018 - ? - China - - - - - 1 LOVD
./. - c.-19786395_*2052133dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.-60G>A r.(?) p.(=) Unknown - benign g.125930950C>T g.126595258C>T ALDH7A1(NM_001202404.1):c.-60G>A, ALDH7A1(NM_001202404.2):c.-60G>A - ALDH7A1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-60G>A r.(?) p.(=) Unknown - benign g.125930950C>T g.126595258C>T ALDH7A1(NM_001202404.1):c.-60G>A, ALDH7A1(NM_001202404.2):c.-60G>A - ALDH7A1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-34G>C r.(?) p.(=) Unknown - likely benign g.125930924C>G g.126595232C>G ALDH7A1(NM_001202404.2):c.-34G>C - ALDH7A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.39A>G r.(?) p.(Ala13=) Unknown - benign g.125930852T>C g.126595160T>C ALDH7A1(NM_001182.5):c.39A>G (p.A13=) - ALDH7A1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.73C>T r.(?) p.(Pro25Ser) Both (homozygous) - likely benign g.125930818G>A g.126595126G>A - - ALDH7A1_000050 - PubMed: Saeed 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES obesity 29311637-Fam3 PubMed: Saeed 2018 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.119C>G r.(?) p.(Ala40Gly) Parent #1 - pathogenic (recessive) g.125930772G>C g.126595080G>C - - ALDH7A1_000158 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-53 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.187G>T r.(?) p.(Gly63*) Parent #2 - pathogenic (recessive) g.125930704C>A g.126595012C>A - - ALDH7A1_000157 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-51 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.191del r.(?) p.(Glu64Glyfs*14) Parent #1 - pathogenic (recessive) g.125930700del g.126595008del c.191delA - ALDH7A1_000156 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-127 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.192+2dup r.spl? p.? Both (homozygous) - pathogenic (recessive) g.125930697dup g.126595005dup c.192+2dupT - ALDH7A1_000155 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-66 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.192+2T>G r.spl p.? Parent #1 - pathogenic (recessive) g.125930697A>C g.126595005A>C - - ALDH7A1_000154 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-12 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
?/. - c.192+6C>T r.(=) p.(=) Unknown - VUS g.125930693G>A - ALDH7A1(NM_001182.4):c.192+6C>T - ALDH7A1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.193-711A>G r.(=) p.(=) Unknown - benign g.125929807T>C g.126594115T>C ALDH7A1(NM_001182.5):c.193-711A>G - ALDH7A1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.193-98A>G r.(=) p.(=) Unknown - benign g.125929194T>C g.126593502T>C ALDH7A1(NM_001182.5):c.193-98A>G - ALDH7A1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.193-15T>C r.spl p.(=) Parent #1 - VUS g.125929111A>G g.126593419A>G [c.193-9T>C] [c.193-15T>C] - ALDH7A1_000153 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-158 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
?/. - c.193-15T>C r.spl p.(=) Parent #1 - VUS g.125929111A>G g.126593419A>G [c.193-9T>C] [c.193-15T>C] - ALDH7A1_000153 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-163 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
?/. 1i c.193-12T>G r.spl p.? Parent #1 - VUS g.125929108A>C g.126593416A>C - - ALDH7A1_000184 - PubMed: Ganapathy 2019 - rs770632526 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4199 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.193-9T>C r.spl p.(=) Parent #1 - VUS g.125929105A>G g.126593413A>G [c.193-9T>C] [c.193-15T>C] - ALDH7A1_000152 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-158 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
?/. - c.193-9T>C r.spl p.(=) Parent #1 - VUS g.125929105A>G g.126593413A>G [c.193-9T>C] [c.193-15T>C] - ALDH7A1_000152 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-163 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+?/. - c.203C>A r.(?) p.Thr68Asn Unknown - NA g.125929086G>T g.126593394G>T - - ALDH7A1_000151 expression cloning in E.coli (at 37oC) shows 0.535 alpha‐AASADH activity (nmol NADH/min/mg ATQ) PubMed: Coughlin 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203C>A r.(?) p.(Thr68Asn) Unknown - VUS g.125929086G>T - ALDH7A1(NM_001182.4):c.203C>A (p.T68N) - ALDH7A1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.241C>T r.(?) p.(Arg81*) Parent #1 - pathogenic (recessive) g.125929048G>A g.126593356G>A - - ALDH7A1_000150 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-87 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.241C>T r.(?) p.(Arg81*) Parent #2 - pathogenic (recessive) g.125929048G>A g.126593356G>A - - ALDH7A1_000150 - - - - Germline - - - - - DNA SEQ-NG - - EPVB6D - - - - - - - - - - - 1 Min Peng
+/. - c.246+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.125929042C>T g.126593350C>T - - ALDH7A1_000149 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-3 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.246+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.125929042C>T g.126593350C>T - - ALDH7A1_000149 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-75 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
-?/. - c.246+31G>T r.(=) p.(=) Unknown - likely benign g.125929012C>A g.126593320C>A ALDH7A1(NM_001182.5):c.246+31G>T - ALDH7A1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246+35_246+42dup r.(=) p.(=) Unknown - benign g.125929029_125929036dup g.126593337_126593344dup ALDH7A1(NM_001182.5):c.246+6delAinsAGTGTGTGT - ALDH7A1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246+37_246+42del r.(=) p.(=) Unknown - likely benign g.125929031_125929036del g.126593339_126593344del ALDH7A1(NM_001182.5):c.246+37_246+42delGTGTGT - ALDH7A1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246+37_246+42dup r.(=) p.(=) Unknown - benign g.125929031_125929036dup g.126593339_126593344dup ALDH7A1(NM_001182.5):c.246+37_246+42dupGTGTGT - ALDH7A1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246+39_246+42del r.(=) p.(=) Unknown - benign g.125929033_125929036del g.126593341_126593344del ALDH7A1(NM_001182.5):c.246+39_246+42delGTGT - ALDH7A1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246+39_246+42dup r.(=) p.(=) Unknown - benign g.125929033_125929036dup g.126593341_126593344dup ALDH7A1(NM_001182.5):c.246+39_246+42dupGTGT, ALDH7A1(NM_001182.5):c.246+6delAinsAGTGT - ALDH7A1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246+41_246+42del r.(=) p.(=) Unknown - likely benign g.125929035_125929036del g.126593343_126593344del ALDH7A1(NM_001182.5):c.246+41_246+42delGT - ALDH7A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246+41_246+42dup r.(=) p.(=) Unknown - likely benign g.125929035_125929036dup g.126593343_126593344dup ALDH7A1(NM_001182.5):c.246+41_246+42dupGT, ALDH7A1(NM_001182.5):c.246+6delAinsAGT - ALDH7A1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246+167T>A r.(=) p.(=) Unknown - likely benign g.125928876A>T g.126593184A>T ALDH7A1(NM_001182.5):c.246+167T>A - ALDH7A1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.247-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.125928422C>G g.126592730C>G - - ALDH7A1_000148 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-109 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
-/. - c.273T>C r.(?) p.(Thr91=) Unknown - benign g.125928395A>G g.126592703A>G ALDH7A1(NM_001182.5):c.273T>C (p.T91=) - ALDH7A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273T>C r.(?) p.(Thr91=) Unknown - benign g.125928395A>G g.126592703A>G ALDH7A1(NM_001182.5):c.273T>C (p.T91=) - ALDH7A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292G>A r.(?) p.(Ala98Thr) Unknown - VUS g.125928376C>T g.126592684C>T ALDH7A1(NM_001182.4):c.292G>A (p.(Ala98Thr)) - ALDH7A1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.312+1G>A r.spl? p.? Unknown - VUS g.125928355C>T g.126592663C>T ALDH7A1(NM_001182.5):c.312+1G>A - ALDH7A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.312+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.125928355C>T g.126592663C>T - - ALDH7A1_000033 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-17 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.312+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.125928355C>T g.126592663C>T - - ALDH7A1_000033 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-93 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.312+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.125928355C>T g.126592663C>T - - ALDH7A1_000033 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-105 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.312+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.125928355C>T g.126592663C>T - - ALDH7A1_000033 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-172 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.312+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.125928355C>T g.126592663C>T - - ALDH7A1_000033 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-173 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. 3i_4i c.(312+1_313-1)_(393+1_394-1)del r.spl p.? Both (homozygous) - pathogenic (recessive) g.(125918667_125919623)_(125919705_125928355)del - - - ALDH7A1_000145 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-69 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Both (homozygous) ACMG pathogenic g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - EPD - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. 3 c.328C>T r.(?) p.(Arg110*) Parent #1 ACMG pathogenic g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Tumienė 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29286531-Pat22 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - 1 Johan den Dunnen
+/. - c.328C>T r.(?) p.(Arg110*) Parent #1 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-4 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Parent #1 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-8 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Parent #1 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-21 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Parent #2 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-23 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Parent #2 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-27 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Parent #1 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-50 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Parent #1 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-61 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Parent #1 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-63 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Parent #1 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-130 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Parent #1 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-170 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.(Arg110*) Parent #1 - pathogenic (recessive) g.125919689G>A g.126583997G>A - - ALDH7A1_000006 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-180 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.328C>T r.(?) p.Arg110* Unknown - NA g.125919689G>A g.126583997G>A - - ALDH7A1_000006 expression cloning in E.coli shows no alpha‐AASADH activity PubMed: Mills 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.332G>A r.(?) p.(Gly111Glu) Parent #1 - pathogenic (recessive) g.125919685C>T g.126583993C>T - - ALDH7A1_000147 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-1 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.332G>A r.(?) p.(Gly111Glu) Parent #2 - pathogenic (recessive) g.125919685C>T g.126583993C>T - - ALDH7A1_000147 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-20 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.332G>A r.(?) p.(Gly111Glu) Parent #1 - pathogenic (recessive) g.125919685C>T g.126583993C>T - - ALDH7A1_000147 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-48 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.332G>A r.(?) p.Gly111Glu Unknown - NA g.125919685C>T g.126583993C>T - - ALDH7A1_000147 expression cloning in E.coli shows no alpha‐AASADH activity PubMed: Coulter-Mackie 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.346C>T r.(?) p.(Gln116Ter) Unknown - pathogenic g.125919671G>A g.126583979G>A ALDH7A1(NM_001182.5):c.346C>T (p.Q116*) - ALDH7A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364C>T r.(?) p.(Arg122Trp) Parent #1 - pathogenic (recessive) g.125919653G>A g.126583961G>A - - ALDH7A1_000146 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-51 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
-?/. - c.364C>T r.(?) p.Arg122Trp Unknown - NA g.125919653G>A g.126583961G>A - - ALDH7A1_000146 expression cloning in E.coli (at 37oC) shows 0.812 alpha‐AASADH activity (nmol NADH/min/mg ATQ) PubMed: Coughlin 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.373A>G r.(?) p.(Ile125Val) Unknown - likely benign g.125919644T>C g.126583952T>C ALDH7A1(NM_001182.5):c.373A>G (p.I125V) - ALDH7A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.393+94del r.(=) p.(=) Unknown - benign g.125919541del g.126583849del ALDH7A1(NM_001182.5):c.393+94delT - ALDH7A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.394-1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.125918667C>T g.126582975C>T - - ALDH7A1_000144 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-94 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.394-1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.125918667C>G g.126582975C>G - - ALDH7A1_000143 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-23 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+?/. - c.394G>T r.(?) p.(Val132Leu) Unknown ACMG likely pathogenic g.125918666C>A - - - ALDH7A1_000188 - - - - Unknown - - - - - DNA SEQ-NG - - SIDS SIDS030 - - M - Switzerland Europe 00y02m - - - 1 Cordula Haas
?/. - c.398C>G r.(?) p.(Ser133Cys) Unknown - VUS g.125918662G>C - ALDH7A1(NM_001182.4):c.398C>G (p.S133C) - ALDH7A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.415del r.(?) p.(Ile139Serfs*2) Parent #2 - pathogenic (recessive) g.125918648del g.126582956del - - ALDH7A1_000142 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-90 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
?/. - c.442C>G r.(?) p.(Gln148Glu) Unknown - VUS g.125918618G>C g.126582926G>C ALDH7A1(NM_001182.4):c.442C>G (p.(Gln148Glu)) - ALDH7A1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.442C>T r.(?) p.(Gln148*) Parent #2 - pathogenic (recessive) g.125918618G>A g.126582926G>A - - ALDH7A1_000141 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-108 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.445G>A r.(?) p.(Glu149Lys) Both (homozygous) - pathogenic (recessive) g.125918615C>T g.126582923C>T - - ALDH7A1_000140 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-95 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.460T>C r.(?) p.(Cys154Arg) Both (homozygous) - pathogenic (recessive) g.125918600A>G g.126582908A>G - - ALDH7A1_000139 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-56 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.467A>G r.(?) p.(Tyr156Cys) Parent #1 - pathogenic (recessive) g.125918593T>C g.126582901T>C - - ALDH7A1_000138 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-79 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.469G>C r.(?) p.Ala157Pro Unknown - NA g.125918591C>G g.126582899C>G - - ALDH7A1_000137 expression cloning in E.coli shows no alpha‐AASADH activity PubMed: Korasick 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.481T>C r.(?) p.(Ser161Pro) Parent #1 - pathogenic (recessive) g.125918579A>G g.126582887A>G - - ALDH7A1_000136 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-31 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.494G>A r.(?) p.(Gly165Glu) Parent #2 - pathogenic (recessive) g.125918566C>T g.126582874C>T - - ALDH7A1_000135 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-48 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.494G>T - p.Gln165Val Unknown - NA g.125918566C>T g.126582874C>T - - ALDH7A1_000135 expression cloning in E.coli shows no alpha‐AASADH activity Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Korasick 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.497G>T r.(?) p.Gln166Val Unknown - NA g.125918563C>A g.126582871C>A - - ALDH7A1_000134 expression cloning in E.coli shows no alpha‐AASADH activity PubMed: Korasick 2017 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.503_506del r.(?) p.(Ile168Serfs*10) Parent #1 - pathogenic (recessive) g.125918554_125918557del g.126582862_126582865del c.503_506delTCTT - ALDH7A1_000133 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-9 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.503_506del r.(?) p.(Ile168Serfs*10) Parent #2 - pathogenic (recessive) g.125918554_125918557del g.126582862_126582865del c.503_506delTCTT - ALDH7A1_000133 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-28 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.503_506del r.(?) p.(Ile168Serfs*10) Parent #2 - pathogenic (recessive) g.125918554_125918557del g.126582862_126582865del c.503_506delTCTT - ALDH7A1_000133 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-40 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.517+5G>A r.spl? p.? Parent #1 - pathogenic (recessive) g.125918538C>T g.126582846C>T - - ALDH7A1_000132 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-18 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.517+5G>A r.spl? p.? Parent #2 - pathogenic (recessive) g.125918538C>T g.126582846C>T - - ALDH7A1_000132 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-37 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.517+5G>A r.spl? p.? Both (homozygous) - pathogenic (recessive) g.125918538C>T g.126582846C>T - - ALDH7A1_000132 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-62 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.517+5G>A r.spl? p.? Both (homozygous) - pathogenic (recessive) g.125918538C>T g.126582846C>T - - ALDH7A1_000132 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-112 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
-/. - c.518-12T>G r.(=) p.(=) Unknown - benign g.125912915A>C g.126577223A>C ALDH7A1(NM_001182.5):c.518-12T>G - ALDH7A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.518-12T>G r.(=) p.(=) Unknown - benign g.125912915A>C g.126577223A>C ALDH7A1(NM_001182.5):c.518-12T>G - ALDH7A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518-12T>G r.(=) p.(=) Parent #1 - likely benign g.125912915A>C g.126577223A>C - - ALDH7A1_000027 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79544459 Germline - 12/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
+?/. - c.518-1G>C r.spl p.? Paternal (confirmed) - likely pathogenic g.125912904C>G g.126577212C>G - - ALDH7A1_000003 - - - - Germline yes - - - - DNA SEQ blood - EPD - - - F no Syria white - - - - 1 Nicolai Kohlschmidt
+/. - c.518-1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.125912904C>G g.126577212C>G - - ALDH7A1_000003 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-88 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.518-1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.125912904C>G g.126577212C>G - - ALDH7A1_000003 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-90 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. 5i_6i c.(517+1_518-1)_(650+1_651-1)del r.spl p.? Both (homozygous) - pathogenic (recessive) g.(125911157_125912770)_(125912904_125918542)del - - - ALDH7A1_000123 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-84 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. 5i_6i c.(517+1_518-1)_(650+1_651-1)del r.spl p.? Parent #2 - pathogenic (recessive) g.(125911157_125912770)_(125912904_125918542)del - - - ALDH7A1_000123 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-130 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
+/. - c.529G>C r.(?) p.(Ala177Pro) Parent #1 - pathogenic (recessive) g.125912892C>G g.126577200C>G - - ALDH7A1_000131 - PubMed: Coughlin 2019 - - Germline - - - - - DNA SEQ - - EPD PDE-110 PubMed: Coughlin 2019 - - - - - - - - - 1 Curtis Coughlin II
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »


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