Full data view for gene GPAA1

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

15 entries on 1 page. Showing entries 1 - 15.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.75-5C>T r.spl? p.? Unknown - benign g.145138022C>T g.144083119C>T GPAA1(NM_003801.4):c.75-5C>T - GPAA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.152C>T r.(?) p.(Ser51Leu) Maternal (confirmed) - - g.145138104C>T g.144083201C>T - - GPAA1_000003 - PubMed: NGuyen 2017 - - Germline - - - 0 - DNA SEQ - - GPIBD 29100095-Fam2PatII2 PubMed: NGuyen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M no United States - - 0 - - 1 Johan den Dunnen
+/. - c.160_161delinsAA r.(?) p.(Ala54Asn) Maternal (confirmed) - - g.145138112_145138113delinsAA g.144083209_144083210delinsAA - - GPAA1_000009 - PubMed: NGuyen 2017 - - Germline yes - - 0 - DNA SEQ - - GPIBD 29100095-Fam5PatVII2/4 PubMed: NGuyen 2017 2-generation family, affected brothers, unaffected heterozygous carrier parents M no Finland - - 0 - - 2 Johan den Dunnen
+/. - c.527G>C r.(?) p.(Trp176Ser) Both (homozygous) - - g.145138854G>C g.144083951G>C - - GPAA1_000007 - PubMed: NGuyen 2017 - - Germline yes - - 0 - DNA SEQ - - GPIBD 29100095-Fam4PatVII1/2/3 PubMed: NGuyen 2017 7-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - 0 - - 3 Johan den Dunnen
-?/. - 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) - - g.145139371T>C g.144084468T>C - - GPAA1_000008 - PubMed: NGuyen 2017 - - Germline yes - - 0 - DNA SEQ - - GPIBD 29100095-Fam5PatVII2/4 PubMed: NGuyen 2017 2-generation family, affected brothers, unaffected heterozygous carrier parents M no Finland - - 0 - - 2 Johan den Dunnen
+/. - c.872T>C r.(?) p.(Leu291Pro) Paternal (confirmed) - - g.145139374T>C g.144084471T>C - - GPAA1_000001 - PubMed: NGuyen 2017 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES GPIBD 29100095-Fam1PaiII1/2 PubMed: NGuyen 2017 2-generation family, sister/brother, unaffected heterozygous carrier parents F;M - United States Hispanic - 0 - - 2 Johan den Dunnen
+/. - c.920del r.(?) p.(Gly307Alafs*11) Paternal (confirmed) - - g.145139422del g.144084519del 920delG - GPAA1_000005 - PubMed: NGuyen 2017 - - Germline yes - - 0 - DNA SEQ - - GPIBD 29100095-Fam3PatII2/3 PubMed: NGuyen 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Egypt - - 0 - - 2 Johan den Dunnen
+/. - c.981_993del r.(?) p.(Gln327Hisfs*102) Maternal (confirmed) - - g.145139483_145139495del g.144084580_144084592del - - GPAA1_000002 - PubMed: NGuyen 2017 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES GPIBD 29100095-Fam1PaiII1/2 PubMed: NGuyen 2017 2-generation family, sister/brother, unaffected heterozygous carrier parents F;M - United States Hispanic - 0 - - 2 Johan den Dunnen
+/. - c.1164+5C>T r.spl? p.? Paternal (confirmed) - - g.145139783C>T g.144084880C>T - - GPAA1_000004 reduced mRNA expression LCLs PubMed: NGuyen 2017 - - Germline - - - 0 - DNA SEQ - - GPIBD 29100095-Fam2PatII2 PubMed: NGuyen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M no United States - - 0 - - 1 Johan den Dunnen
+/. - c.1165G>C r.(?) p.(Ala389Pro) Maternal (confirmed) - - g.145139946G>C g.144085043G>C - - GPAA1_000006 - PubMed: NGuyen 2017 - - Germline yes - - 0 - DNA SEQ - - GPIBD 29100095-Fam3PatII2/3 PubMed: NGuyen 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Egypt - - 0 - - 2 Johan den Dunnen
+?/. - 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.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 - - - - - - - - - - - - - - - - - - - - - - -
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