All transcript variants in gene GPAA1

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-/. - c.75-5C>T benign r.spl? p.? g.145138022C>T - GPAA1(NM_003801.3):c.75-5C>T - GPAA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.152C>T - r.(?) p.(Ser51Leu) g.145138104C>T - - - GPAA1_000003 - PubMed: NGuyen 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.160_161delinsAA - r.(?) p.(Ala54Asn) g.145138112_145138113delinsAA - - - GPAA1_000009 - PubMed: NGuyen 2017 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.512G>A likely benign r.(?) p.(Arg171Gln) g.145138762G>A - GPAA1(NM_003801.3):c.512G>A (p.(Arg171Gln)) - GPAA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.527G>C - r.(?) p.(Trp176Ser) g.145138854G>C - - - GPAA1_000007 - PubMed: NGuyen 2017 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.823G>C likely benign r.(?) p.(Glu275Gln) g.145139325G>C - GPAA1(NM_003801.3):c.823G>C (p.(Glu275Gln)) - EXOSC4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.833C>T likely benign r.(?) p.(Thr278Ile) g.145139335C>T - GPAA1(NM_003801.3):c.833C>T (p.T278I) - EXOSC4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.869T>C - r.(?) p.(Leu290Pro) g.145139371T>C - - - GPAA1_000008 - PubMed: NGuyen 2017 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.872T>C - r.(?) p.(Leu291Pro) g.145139374T>C - - - GPAA1_000001 - PubMed: NGuyen 2017 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.920del - r.(?) p.(Gly307Alafs*11) g.145139422del - 920delG - GPAA1_000005 - PubMed: NGuyen 2017 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.981_993del - r.(?) p.(Gln327Hisfs*102) g.145139483_145139495del - - - GPAA1_000002 - PubMed: NGuyen 2017 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.1164+5C>T - r.spl? p.? g.145139783C>T - - - GPAA1_000004 reduced mRNA expression LCLs PubMed: NGuyen 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1165G>C - r.(?) p.(Ala389Pro) g.145139946G>C - - - GPAA1_000006 - PubMed: NGuyen 2017 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.1477_1478del likely pathogenic r.(?) p.(Arg493Glyfs*152) g.145140501_145140502del - GPAA1(NM_003801.3):c.1477_1478del (p.(Arg493fs)) - EXOSC4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1540G>A likely benign r.(?) p.(Ala514Thr) g.145140564G>A - GPAA1(NM_003801.3):c.1540G>A (p.(Ala514Thr)) - GPAA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1621C>T VUS r.(?) p.(Arg541Trp) g.145140645C>T - GPAA1(NM_003801.3):c.1621C>T (p.R541W) - GPAA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1622+3A>G likely benign r.spl? p.? g.145140649A>G - GPAA1(NM_003801.3):c.1622+3A>G (p.?) - GPAA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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