Full data view for gene ASPA

Information The variants shown are described using the NM_000049.2 transcript reference sequence.

215 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     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.-4479_-4478del r.(?) p.(=) Unknown - likely benign g.3374975_3374976del g.3471681_3471682del SPATA22(NM_001170698.1):c.-74+2_-74+3del (p.(=)) - ASPA_018109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ _1_6_ c.0 r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_3379453)_(3402383_?)del - ex1-6 del - ASPA_018102 439kb del PubMed: 19932039 - - Germline - - - 0 - DNA arraySNP - - Canavan - PubMed: 19932039 - - - Turkey - - 0 - - 1 Gajja Salomons
+/+ _1_6_ c.0 r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_3379453)_(3402383_?)del - 92 kb ex1-6del - ASPA_018104 - PubMed: 16854607 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Italy - - 0 - - 1 Gajja Salomons
+/+ _1_6_ c.0 r.0? p.0? Parent #1 - pathogenic (recessive) g.(?_3379453)_(3402383_?)del - 92 kb ex1-6del - ASPA_018104 - PubMed: 16854607 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ _1_6_ c.0 r.0? p.0? Parent #1 - pathogenic (recessive) g.(?_3379453)_(3402383_?)del - 74 kb ex1-6del+TRPV3del - ASPA_018105 706 chr17:3324311chr17:3324311_3398497del(hg18) PubMed: 22019069 - - Germline - - - 0 - DNA PCR, arraySNP - - Canavan - PubMed: 22019069 - F - Italy - - 0 - - 1 Gajja Salomons
+/+ 2i c.?del r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.? - 190 bp del - ASPA_018100 - PubMed: 11238686 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 11238686 - - - Mexico - - 0 - - 1 Gajja Salomons
+/+ 3 c.?del r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.? - 3346 bp del - ASPA_018101 c.432+708_526+2261del PubMed: 18978679 - - Germline - - - 0 - DNA SEQ, MLPA - - Canavan - PubMed: 18978679 - - - Saudi Arabia - - 0 - - 1 Gajja Salomons
+/+ 1 c.2T>C r.(?) p.0? Parent #1 - pathogenic (recessive) g.3379455T>C g.3476161T>C - - ASPA_018106 - PubMed: 20129749 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 20129749 - M - China - - 0 - - 1 Gajja Salomons
+/+ 1 c.10delinsGG r.(?) p.(Cys4Glyfs*5) Parent #1 - pathogenic (recessive) g.3379463delinsGG g.3476169delinsGG 10T>G;c.11insG - ASPA_000006 - PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Germany - - 0 - - 1 Gajja Salomons
-?/. - c.10T>C r.(?) p.(Cys4Arg) Unknown - likely benign g.3379463T>C g.3476169T>C ASPA(NM_000049.3):c.10T>C (p.C4R) - ASPA_008009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.32del r.(?) p.(Ile11Asnfs*15) Both (homozygous) - pathogenic (recessive) g.3379485del g.3476191del - - ASPA_018032 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - - - - African American - 0 - - 1 Gajja Salomons
+/+ 1 c.34_46del r.(?) p.(Gln12Serfs*10) Parent #1 - pathogenic (recessive) g.3379487_3379499del g.3476193_3476205del c.33del13 - ASPA_018021 - PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Germany;Italy - - 0 - - 1 Gajja Salomons
+/+ 1 c.41T>G r.(?) p.(Val14Gly) Parent #1 - pathogenic (recessive) g.3379494T>G g.3476200T>G - - ASPA_018107 - PubMed: 16854607 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ 1 c.47T>C r.(?) p.(Ile16Thr) Parent #2 - pathogenic (recessive) g.3379500T>C g.3476206T>C - - ASPA_018033 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8023850 - - - Italy - - 0 - - 1 Gajja Salomons
+/+ 1 c.47T>C r.(?) p.(Ile16Thr) Parent #1 - pathogenic (recessive) g.3379500T>C g.3476206T>C - - ASPA_018033 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - - - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 1 c.52G>A r.(?) p.(Gly18Arg) Both (homozygous) - pathogenic (recessive) g.3379505G>A g.3476211G>A - - ASPA_018074 - PubMed: 16802711 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16802711 - - - Iran - - 0 - - 1 Gajja Salomons
+/+ 1 c.62A>C r.(?) p.(His21Pro) Parent #1 - pathogenic (recessive) g.3379515A>C g.3476221A>C - - ASPA_018028 - PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - - - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 1 c.71A>G r.(?) p.(Glu24Gly) Parent #1 - pathogenic (recessive) g.3379524A>G g.3476230A>G - - ASPA_018010 - PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #2 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Italy - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Both (homozygous) - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Poland - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Both (homozygous) - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Poland - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Poland - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - M - Poland - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Both (homozygous) - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - - - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Both (homozygous) - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - - - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - M - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - M - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - M - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Both (homozygous) - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - - - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - M - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - M - Israel - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - M - Poland - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Poland - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Both (homozygous) - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Germany - - 0 - - 1 Gajja Salomons
+/+ 1 c.79G>A r.(?) p.(Gly27Arg) Parent #1 - pathogenic (recessive) g.3379532G>A g.3476238G>A - - ASPA_018016 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - - - Netherlands - - 0 - - 1 Gajja Salomons
?/. - c.79G>A r.(?) p.(Gly27Arg) Unknown - VUS g.3379532G>A g.3476238G>A ASPA(NM_000049.3):c.79G>A (p.G27R) - ASPA_018016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.169G>A r.(?) p.(Ala57Thr) Parent #1 - pathogenic (recessive) g.3379622G>A g.3476328G>A - - ASPA_018029 - PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ 1 c.170C>T r.(?) p.(Ala57Val) Parent #2 - pathogenic (recessive) g.3379623C>T g.3476329C>T - - ASPA_018045 - - - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8023850 - F - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.203A>C r.(?) p.(Asp68Ala) Parent #1 - pathogenic (recessive) g.3379656A>C g.3476362A>C - - ASPA_018012 - PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+/+ 1 c.209A>G r.(?) p.(Asn70Ser) Parent #2 - pathogenic (recessive) g.3379662A>G g.3476368A>G - - ASPA_018108 - PubMed: 20129749 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 20129749 - M - China - - 0 - - 1 Gajja Salomons
+/+ 1 c.212G>A r.(?) p.(Arg71His) Both (homozygous) - pathogenic (recessive) g.3379665G>A g.3476371G>A - - ASPA_018075 - PubMed: 16437572 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16437572 - F - - - - 0 - - 1 Gajja Salomons
+/+ 1i c.237-2A>T r.spl p.? Parent #1 - pathogenic (recessive) g.3384895A>T g.3481601A>T IVS1-2A>T - ASPA_018025 extra 40 nucl. Intron1 PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ 1i_6_ c.(236+1_237-1)_(*1_?)del r.(?) p.(?) Parent #1 - pathogenic (recessive) g.(3379690_3384896)_(3402383 _?)del - 56 kb intr.1-3'UTR del - ASPA_018103 - PubMed: 16854607 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ 2 c.244del r.(?) p.(Met82Cysfs*9) Parent #1 - pathogenic (recessive) g.3384904del g.3481610del c.244delA - ASPA_018022 - PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - - African American - 0 - - 1 Gajja Salomons
+/+ 2 c.244dup r.(?) p.(Met82Asnfs*8) Parent #2 - pathogenic (recessive) g.3384904dup g.3481610dup c.245insA - ASPA_018020 - PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Jamaica - - 0 - - 1 Gajja Salomons
+/+ 2 c.244dup r.(?) p.(Met82Asnfs*8) Parent #2 - pathogenic (recessive) g.3384904dup g.3481610dup c.245insA - ASPA_018020 - PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Mexico - - 0 - - 1 Gajja Salomons
+/+ 2 c.244dup r.(?) p.(Met82Asnfs*8) Both (homozygous) - pathogenic (recessive) g.3384904dup g.3481610dup c.245insA - ASPA_018020 - PubMed: 10407784 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10407784 - - - Italy - - 0 - - 1 Gajja Salomons
+/+ 2 c.244dup r.(?) p.(Met82Asnfs*8) Parent #2 - pathogenic (recessive) g.3384904dup g.3481610dup c.244_245insA - ASPA_018020 - PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - - - Germany - - 0 - - 1 Gajja Salomons
?/. - c.260C>T r.(?) p.(Pro87Leu) Unknown - VUS g.3384920C>T g.3481626C>T ASPA(NM_000049.2):c.260C>T (p.(Pro87Leu)) - ASPA_008010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.302G>T r.(?) p.(Gly101Val) Parent #1 - pathogenic (recessive) g.3384962G>T g.3481668G>T - - ASPA_018047 - - - - Germline - - - 0 - DNA SEQ - - Canavan - - - M - Croatia (Hrvatska) - - 0 - - 1 Gajja Salomons
+/+ 2 c.302G>T r.(?) p.(Gly101Val) Parent #2 - pathogenic (recessive) g.3384962G>T g.3481668G>T - - ASPA_018047 - - - - Germline - - - 0 - DNA SEQ - - Canavan - - - M - Croatia (Hrvatska) - - 0 - - 1 Gajja Salomons
+/+ 2 c.327T>G r.(?) p.(Tyr109*) Both (homozygous) - pathogenic (recessive) g.3384987T>G g.3481693T>G - - ASPA_018076 - PubMed: 10407784 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10407784 - - - Spain - - 0 - - 1 Gajja Salomons
+/+ 2 c.340G>T r.(?) p.(Asp114Tyr) Both (homozygous) - pathogenic (recessive) g.3385000G>T g.3481706G>T - - ASPA_018077 - PubMed: 12205125 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12205125 - - - - Scandinavia - 0 - - 1 Gajja Salomons
+/+ 2 c.342C>A r.(?) p.(Asp114Glu) Both (homozygous) - pathogenic (recessive) g.3385002C>A g.3481708C>A - - ASPA_018034 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - - - Turkey - - 0 - - 1 Gajja Salomons
+/+ 2 c.362A>T r.(?) p.(Asn121Ile) Parent #2 - pathogenic (recessive) g.3385022A>T g.3481728A>T - - ASPA_018078 - PubMed: 16854607 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8023850 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ 2 c.368G>A r.(?) p.(Gly123Glu) Parent #1 - pathogenic (recessive) g.3385028G>A g.3481734G>A - - ASPA_018035 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - - - - Canada/Western Europe - 0 - - 1 Gajja Salomons
+/+ 2 c.382del r.(?) p.(Glu129Argfs*8) Parent #1 - pathogenic (recessive) g.3385042del g.3481748del c.382delC - ASPA_018092 - PubMed: 16854607 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Italy - - 0 - - 1 Gajja Salomons
+/+ 2 c.427A>T r.(?) p.(Ile143Phe) Parent #1 - pathogenic (recessive) g.3385087A>T g.3481793A>T - - ASPA_018080 - PubMed: 16854607 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Guatemala - - 0 - - 1 Gajja Salomons
+/+ 2 c.428T>C r.(?) p.(Ile143Thr) Both (homozygous) - pathogenic (recessive) g.3385088T>C g.3481794T>C - - ASPA_018079 - PubMed: 9452117 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 9452117 - F - Japan - - 0 - - 1 Gajja Salomons
+/+ 2i c.432+1G>A r.(?) p.? Both (homozygous) - pathogenic (recessive) g.3385093G>A g.3481799G>A - - ASPA_018091 - PubMed: 17999961 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 17999961 - M - Turkey - - 0 - - 1 Gajja Salomons
+/. - c.433-2A>G r.spl? p.? Unknown - pathogenic g.3386791A>G g.3483497A>G ASPA(NM_000049.3):c.433-2A>G - ASPA_008011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2i c.433-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.3386791A>G g.3483497A>G IVS2-2A>G - ASPA_018007 aberrant ASPA PubMed: 8023850 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8023850 - - - United States - - 0 - - 1 Gajja Salomons
+/+ 2i c.433-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.3386792G>A g.3483498G>A - - ASPA_018096 - - - - Germline - - - 0 - DNA SEQ - - Canavan - - - - - - - - 0 - - 1 Gajja Salomons
+/+ 2i_5i c.(432+1_433-1)_(744+1_745-1)del r.? p.? Parent #1 - pathogenic (recessive) g.(3385093_3386792)_(3397754_3402184)del - del exon 3-5 - ASPA_018099 - PubMed: 16854607 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ 3 c.455G>A r.(?) p.(Cys152Tyr) Parent #1 - pathogenic (recessive) g.3386815G>A g.3483521G>A - - ASPA_018036 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - - - Ireland - - 0 - - 1 Gajja Salomons
+/+ 3 c.456C>G r.(?) p.(Cys152Trp) Both (homozygous) - pathogenic (recessive) g.3386816C>G g.3483522C>G - - ASPA_018014 - PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Yemen - - 0 - - 1 Gajja Salomons
+/+ 3 c.497C>T r.(?) p.(Thr166Ile) Parent #1 - pathogenic (recessive) g.3386857C>T g.3483563C>T - - ASPA_018082 - PubMed: 16854607 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Mexico - - 0 - - 1 Gajja Salomons
+/+ 3 c.502C>T r.(?) p.(Arg168Cys) Both (homozygous) - pathogenic (recessive) g.3386862C>T g.3483568C>T - - ASPA_018037 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - M - Denmark - - 0 - - 1 Gajja Salomons
+/+ 3 c.502C>T r.(?) p.(Arg168Cys) Parent #1 - pathogenic (recessive) g.3386862C>T g.3483568C>T - - ASPA_018037 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Turkey - - 0 - - 1 Gajja Salomons
+/+ 3 c.502C>T r.(?) p.(Arg168Cys) Parent #1 - pathogenic (recessive) g.3386862C>T g.3483568C>T - - ASPA_018037 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - F - Turkey - - 0 - - 1 Gajja Salomons
+/+ 3 c.502C>T r.(?) p.(Arg168Cys) Parent #2 - pathogenic (recessive) g.3386862C>T g.3483568C>T - - ASPA_018037 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Italy - - 0 - - 1 Gajja Salomons
+/+ 3 c.502C>T r.(?) p.(Arg168Cys) Both (homozygous) - pathogenic (recessive) g.3386862C>T g.3483568C>T - - ASPA_018037 in vitro defic. of ASPA PubMed: 8659549 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8659549 - - - Turkey - - 0 - - 1 Gajja Salomons
+/+ 3 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - F - Spain - - 0 - - 1 Gajja Salomons
+/+ 3 c.503G>A r.(?) p.(Arg168His) Parent #1 - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - F - Spain - - 0 - - 1 Gajja Salomons
+/+ 3 c.503G>A r.(?) p.(Arg168His) Parent #1 - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - M - Spain - - 0 - - 1 Gajja Salomons
+/+ 3 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 3 c.503G>A r.(?) p.(Arg168His) Parent #1 - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - M - Spain - - 0 - - 1 Gajja Salomons
+/+ 3 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 8023850 - M - Poland - - 0 - - 1 Gajja Salomons
+/+ 3 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - M - Tunisia - - 0 - - 1 Gajja Salomons
+/+ 3 c.503G>A r.(?) p.(Arg168His) Parent #1 - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - F - Tunisia - - 0 - - 1 Gajja Salomons
+/+ 3 c.503G>A r.(?) p.(Arg168His) Parent #1 - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - M - Tunisia - - 0 - - 1 Gajja Salomons
+/+ 3 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - F - Germany - - 0 - - 1 Gajja Salomons
+/+ 3 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic (recessive) g.3386863G>A g.3483569G>A - - ASPA_018031 Loss of ASPA activity PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - - - United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
?/. - c.509T>C r.(?) p.(Ile170Thr) Unknown - VUS g.3386869T>C g.3483575T>C ASPA(NM_000049.3):c.509T>C (p.I170T) - ASPA_008015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.509T>C r.(?) p.(Ile170Thr) Unknown - VUS g.3386869T>C g.3483575T>C ASPA(NM_000049.3):c.509T>C (p.I170T) - ASPA_008015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.509T>C r.(?) p.(Ile170Thr) Unknown - VUS g.3386869T>C - ASPA(NM_000049.3):c.509T>C (p.I170T) - ASPA_008015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.527_532del r.(?) p.(Gly176_Ile177del) Parent #1 - pathogenic (recessive) g.3392529_3392534del g.3489235_3489240del c.527del6 - ASPA_018097 - PubMed: 7668285 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 7668285 - - - Italy - - 0 - - 1 Gajja Salomons
+/+ 3i_4i c.(526+1_527-1)_(634+1_635-1)del r.(?) p.? Parent #2 - pathogenic (recessive) g.(3386887_3392528)_(3392637_3397643)del - del ex 4 - ASPA_018070 - PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Netherlands;Turkey - - 0 - - 1 Gajja Salomons
+/+ 3i_4i c.(526+1_527-1)_(634+1_635-1)del r.(?) p.? Both (homozygous) - pathogenic (recessive) g.(3386887_3392528)_(3392637_3397643)del - del ex 4 - ASPA_018070 - PubMed: 10909858 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10909858 - - - Turkey - - 0 - - 1 Gajja Salomons
+/+ 4 c.541C>A r.(?) p.(Pro181Thr) Parent #2 - pathogenic (recessive) g.3392543C>A g.3489249C>A - - ASPA_018011 Loss of ASPA activity PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ 4 c.541C>A r.(?) p.(Pro181Thr) Parent #2 - pathogenic (recessive) g.3392543C>A g.3489249C>A - - ASPA_018011 Loss of ASPA activity PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ 4 c.541C>A r.(?) p.(Pro181Thr) Parent #1 - pathogenic (recessive) g.3392543C>A g.3489249C>A - - ASPA_018011 Loss of ASPA activity PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Netherlands;Turkey - - 0 - - 1 Gajja Salomons
+/+ 4 c.541C>A r.(?) p.(Pro181Thr) Parent #2 - pathogenic (recessive) g.3392543C>A g.3489249C>A - - ASPA_018011 Loss of ASPA activity PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Germany - - 0 - - 1 Gajja Salomons
+/+ 4 c.542C>T r.(?) p.(Pro181Leu) Parent #1 - pathogenic (recessive) g.3392544C>T g.3489250C>T - - ASPA_018083 - PubMed: 16854607 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 16854607 - - - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 4 c.550C>T r.(?) p.(Gln184*) Parent #1 - pathogenic (recessive) g.3392552C>T g.3489258C>T - - ASPA_018017 - PubMed: 12638939 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 12638939 - - - Germany;United Kingdom (Great Britain) - - 0 - - 1 Gajja Salomons
+/+ 4 c.584T>G r.(?) p.(Met195Arg) Both (homozygous) - pathogenic (recessive) g.3392586T>G g.3489292T>G - - ASPA_018084 - PubMed: 10407784 - - Germline - - - 0 - DNA SEQ - - Canavan - PubMed: 10407784 - - - Algeria - - 0 - - 1 Gajja Salomons
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »