Full data view for gene PACS1

Information The variants shown are described using the NM_018026.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T - - PACS1_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T - - PACS1_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T - - PACS1_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T - - PACS1_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T - - PACS1_000001 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - SHMS;MRD17 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T PACS1(NM_018026.3):c.607C>T (p.R203W, p.(Arg203Trp)), PACS1(NM_018026.4):c.607C>T (p.R203W) - PACS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T PACS1(NM_018026.3):c.607C>T (p.R203W, p.(Arg203Trp)), PACS1(NM_018026.4):c.607C>T (p.R203W) - PACS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T PACS1(NM_018026.3):c.607C>T (p.R203W, p.(Arg203Trp)), PACS1(NM_018026.4):c.607C>T (p.R203W) - PACS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T - - PACS1_000001 - PubMed: Schuurs-Hoeijmakers 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - - ID 23159249-Pat1 PubMed: Schuurs-Hoeijmakers 2012 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T - - PACS1_000001 - PubMed: Schuurs-Hoeijmakers 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 23159249-Pat2 PubMed: Schuurs-Hoeijmakers 2012 2-generation family, 1 affected, unaffected non-carrier parents M no Belgium - - - - - 1 Johan den Dunnen
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T PACS1(NM_018026.3):c.607C>T (p.R203W, p.(Arg203Trp)), PACS1(NM_018026.4):c.607C>T (p.R203W) - PACS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T PACS1(NM_018026.3):c.607C>T (p.R203W, p.(Arg203Trp)), PACS1(NM_018026.4):c.607C>T (p.R203W) - PACS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown ACMG pathogenic (dominant) g.65978677C>T g.66211206C>T - - PACS1_000001 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat74 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic (dominant) g.65978677C>T g.66211206C>T - - PACS1_000001 - PubMed: Hong 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Hong 2020 - F - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T - - - PACS1_000001 - - - rs398123009 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T - PACS1(NM_018026.3):c.607C>T (p.R203W, p.(Arg203Trp)), PACS1(NM_018026.4):c.607C>T (p.R203W) - PACS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T - - PACS1_000001 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T - - PACS1_000001 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.607C>T r.(?) p.(Arg203Trp) Unknown - pathogenic g.65978677C>T g.66211206C>T - - PACS1_000001 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
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