Full data view for gene GPAA1

Information The variants shown are described using the NM_003801.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.74+16G>T r.(=) p.(=) Unknown - likely benign g.145137723G>T - GPAA1(NM_003801.4):c.74+16G>T - EXOSC4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75-5C>T r.spl? p.? Unknown - likely benign g.145138022C>T - GPAA1(NM_003801.4):c.75-5C>T - GPAA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.152C>T r.(?) p.(Ser51Leu) Maternal (confirmed) - pathogenic g.145138104C>T g.144083201C>T - - GPAA1_000003 - PubMed: NGuyen 2017 - - Germline - - - - - DNA SEQ - - NEDHCAS 29100095-Fam2PatII2 PubMed: NGuyen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M no United States - - - - - 1 Johan den Dunnen
+/. - c.160_161delinsAA r.(?) p.(Ala54Asn) Maternal (confirmed) - pathogenic g.145138112_145138113delinsAA g.144083209_144083210delinsAA - - GPAA1_000009 - PubMed: NGuyen 2017 - - Germline yes - - - - DNA SEQ - - NEDHCAS 29100095-Fam5PatVII2/4 PubMed: NGuyen 2017 2-generation family, affected brothers, unaffected heterozygous carrier parents M no Finland - - - - - 2 Johan den Dunnen
+/. - c.527G>C r.(?) p.(Trp176Ser) Both (homozygous) - pathogenic g.145138854G>C g.144083951G>C - - GPAA1_000007 - PubMed: NGuyen 2017 - - Germline yes - - - - DNA SEQ - - NEDHCAS 29100095-Fam4PatVII1/2/3 PubMed: NGuyen 2017 7-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 3 Johan den Dunnen
+?/. - c.527G>C r.(?) p.(Trp176Ser) Unknown - likely pathogenic g.145138854G>C - - - GPAA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527G>C r.(?) p.(Trp176Ser) Both (homozygous) - VUS g.145138854G>C g.144083951G>C - - GPAA1_000007 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR153 PubMed: Riazuddin 2017 - - yes Pakistan Punjabi - - - - 1 Johan den Dunnen
?/. - c.535G>A r.(?) p.(Asp179Asn) Unknown - VUS g.145138862G>A - GPAA1(NM_003801.4):c.535G>A (p.(Asp179Asn)) - EXOSC4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.629C>T r.(?) p.(Ser210Phe) Unknown - likely benign g.145139049C>T - GPAA1(NM_003801.4):c.629C>T (p.S210F) - EXOSC4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.823G>A r.(?) p.(Glu275Lys) Unknown - likely benign g.145139325G>A - GPAA1(NM_003801.4):c.823G>A (p.E275K) - EXOSC4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.823G>C r.(?) p.(Glu275Gln) Unknown - likely benign g.145139325G>C g.144084422G>C GPAA1(NM_003801.3):c.823G>C (p.(Glu275Gln)) - EXOSC4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.833C>T r.(?) p.(Thr278Ile) Unknown - likely benign g.145139335C>T g.144084432C>T GPAA1(NM_003801.4):c.833C>T (p.T278I) - EXOSC4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.869T>C r.(?) p.(Leu290Pro) Paternal (confirmed) - pathogenic g.145139371T>C g.144084468T>C - - GPAA1_000008 - PubMed: NGuyen 2017 - - Germline yes - - - - DNA SEQ - - NEDHCAS 29100095-Fam5PatVII2/4 PubMed: NGuyen 2017 2-generation family, affected brothers, unaffected heterozygous carrier parents M no Finland - - - - - 2 Johan den Dunnen
+/. - c.872T>C r.(?) p.(Leu291Pro) Paternal (confirmed) - pathogenic g.145139374T>C g.144084471T>C - - GPAA1_000001 - PubMed: NGuyen 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NEDHCAS 29100095-Fam1PaiII1/2 PubMed: NGuyen 2017 2-generation family, sister/brother, unaffected heterozygous carrier parents F;M - United States Hispanic - - - - 2 Johan den Dunnen
+/. - c.920del r.(?) p.(Gly307Alafs*11) Paternal (confirmed) - pathogenic g.145139422del g.144084519del 920delG - GPAA1_000005 - PubMed: NGuyen 2017 - - Germline yes - - - - DNA SEQ - - NEDHCAS 29100095-Fam3PatII2/3 PubMed: NGuyen 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Egypt - - - - - 2 Johan den Dunnen
?/. - c.932G>A r.(?) p.(Arg311His) Unknown - VUS g.145139434G>A - GPAA1(NM_003801.4):c.932G>A (p.(Arg311His)) - EXOSC4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.981_993del r.(?) p.(Gln327Hisfs*102) Maternal (confirmed) - pathogenic g.145139483_145139495del g.144084580_144084592del - - GPAA1_000002 - PubMed: NGuyen 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NEDHCAS 29100095-Fam1PaiII1/2 PubMed: NGuyen 2017 2-generation family, sister/brother, unaffected heterozygous carrier parents F;M - United States Hispanic - - - - 2 Johan den Dunnen
?/. - c.1055G>A r.(?) p.(Arg352His) Unknown - VUS g.145139669G>A - GPAA1(NM_003801.3):c.1055G>A (p.(Arg352His)) - EXOSC4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1084C>T r.(?) p.(Leu362Phe) Both (homozygous) - likely pathogenic (recessive) g.145139698C>T g.144084795C>T - - GPAA1_000015 novel candidate disease gene PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M9000103 PubMed: Hu 2019 family, 3 affected individuals, double cousin parents - yes - Azeri - - - - 3 Johan den Dunnen
-?/. - c.1134C>T r.(?) p.(=) Unknown - likely benign g.145139748C>T - GPAA1(NM_003801.4):c.1134C>T (p.V378=) - EXOSC4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1164+5C>T r.spl? p.? Paternal (confirmed) - pathogenic g.145139783C>T g.144084880C>T - - GPAA1_000004 reduced mRNA expression LCLs PubMed: NGuyen 2017 - - Germline - - - - - DNA SEQ - - NEDHCAS 29100095-Fam2PatII2 PubMed: NGuyen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M no United States - - - - - 1 Johan den Dunnen
?/. - c.1165-1C>T r.spl p.? Both (homozygous) ACMG pathogenic g.145139945C>T g.144085042C>T - - GPAA1_000016 Two affected patients have this homozygous variant. However, the parents are also homozygous for the same variant and are not known to have had symptoms of epilepsy. ACMG classifies the variant as pathogenic. SNP genotyping did not identify a chromsomal region where only affected indivdiuals are homozygous. - VCV001394986.2 - Germline no - - - - DNA SEQ-NG-I - - epilepsy - family, two affected homozygous patients, unaffected parents also homozygous - - yes Pakistan - - - - - 2 Sadaf Naz
+/. - c.1165G>C r.(?) p.(Ala389Pro) Maternal (confirmed) - pathogenic g.145139946G>C g.144085043G>C - - GPAA1_000006 - PubMed: NGuyen 2017 - - Germline yes - - - - DNA SEQ - - NEDHCAS 29100095-Fam3PatII2/3 PubMed: NGuyen 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Egypt - - - - - 2 Johan den Dunnen
?/. - c.1278G>A r.(?) p.(=) Unknown - VUS g.145140209G>A - GPAA1(NM_003801.4):c.1278G>A (p.(Ser426=)) - EXOSC4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1477_1478del r.(?) p.(Arg493GlyfsTer152) Unknown - likely pathogenic g.145140501_145140502del g.144085598_144085599del - - EXOSC4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1560G>A r.(?) p.(=) Unknown - VUS g.145140584G>A - GPAA1(NM_003801.4):c.1560G>A (p.(Leu520=)) - GPAA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1621C>T r.(?) p.(Arg541Trp) Unknown - VUS g.145140645C>T g.144085742C>T GPAA1(NM_003801.4):c.1621C>T (p.R541W) - GPAA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1622+3A>G r.spl? p.? Unknown - likely benign g.145140649A>G g.144085746A>G GPAA1(NM_003801.3):c.1622+3A>G (p.?) - GPAA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1656C>G r.(?) p.(Ser552Arg) Unknown - VUS g.145140818C>G - GPAA1(NM_003801.4):c.1656C>G (p.(Ser552Arg)) - GPAA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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