Full data view for gene ADAT3

Information The variants shown are described using the NM_138422.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.16del r.(?) p.(Arg6ValfsTer10) Unknown - VUS g.1912062del g.1912063del ADAT3(NM_138422.4):c.16delC (p.R6Vfs*10) - ADAT3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251C>G r.(?) p.(Pro84Arg) Unknown - VUS g.1912297C>G - ADAT3(NM_138422.4):c.251C>G (p.P84R) - ADAT3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG pathogenic g.1912476G>A g.1912477G>A - - ADAT3_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - MRT36 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG pathogenic g.1912476G>A g.1912477G>A - - ADAT3_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - MRT36 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG pathogenic g.1912476G>A g.1912477G>A - - ADAT3_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - MRT36 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.430G>A r.(?) p.(Val144Met) Unknown - likely pathogenic g.1912476G>A g.1912477G>A ADAT3(NM_138422.4):c.430G>A (p.V144M) - ADAT3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG likely pathogenic g.1912476G>A g.1912477G>A NM_138422.1:c.382G>A - ADAT3_000001 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 11DG0313 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG likely pathogenic g.1912476G>A g.1912477G>A NM_138422.1:c.382G>A - ADAT3_000001 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 12DG0628 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG likely pathogenic g.1912476G>A g.1912477G>A NM_138422.1:c.382G>A - ADAT3_000001 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 10DG1658 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG likely pathogenic g.1912476G>A g.1912477G>A NM_138422.1:c.382G>A - ADAT3_000001 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 08F-00103 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG likely pathogenic g.1912476G>A g.1912477G>A NM_138422.1:c.382G>A - ADAT3_000001 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 10DG0053 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG likely pathogenic g.1912476G>A g.1912477G>A NM_138422.1:c.382G>A - ADAT3_000001 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 11DG1198 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG likely pathogenic g.1912476G>A g.1912477G>A NM_138422.1:c.382G>A - ADAT3_000001 ACMG PS4, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 09DG00479 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.430G>A r.(?) p.(Val144Met) Unknown - pathogenic g.1912476G>A - ADAT3(NM_138422.4):c.430G>A (p.V144M) - ADAT3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG likely pathogenic g.1912476G>A g.1912477G>A ADAT3, NM_138422.3, c.430G>A, p.Val144Met - ADAT3_000001 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0.0002 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 2 PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
+?/. - c.430G>A r.(?) p.(Val144Met) Both (homozygous) ACMG likely pathogenic g.1912476G>A g.1912477G>A ADAT3, NM_138422.3, c.430G>A, p.Val144Met - ADAT3_000001 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0.0002 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 3 PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
+/. - c.587C>T r.(?) p.(Ala196Val) Unknown - pathogenic g.1912633C>T - ADAT3(NM_138422.4):c.587C>T (p.A196V) - ADAT3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635_643del r.(?) p.(Gly212_Val214del) Unknown - VUS g.1912681_1912689del - ADAT3(NM_138422.4):c.635_643delGGGCCGTGG (p.G212_V214del) - ADAT3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635_643del r.(?) p.(Gly212_Val214del) Unknown - VUS g.1912681_1912689del - ADAT3(NM_138422.4):c.635_643delGGGCCGTGG (p.G212_V214del) - ADAT3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.640G>A r.(?) p.(Val214Met) Unknown - VUS g.1912686G>A g.1912687G>A ADAT3(NM_138422.4):c.640G>A (p.V214M) - ADAT3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4984G>A r.(=) p.(=) Unknown - likely benign g.1918134G>A g.1918135G>A SCAMP4(NM_079834.2):c.145G>A (p.(Ala49Thr)) - ADAT3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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