Full data view for gene PDS5A

Information The variants shown are described using the NM_001100399.1 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     
-/. 2i c.138+55T>C r.(?) p.(=) Unknown - benign g.39978005A>G g.39976385A>G 18+55T>C - PDS5A_000017 - - - rs35426579 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2i c.138+3251A>G r.(?) p.(=) Unknown - likely benign g.39974809T>C g.39973189T>C - - PDS5A_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. 6i c.655-23T>G r.(?) p.(=) Unknown - benign g.39922042A>C g.39920422A>C 535-23T>G - PDS5A_000002 - PubMed: Zhang 2009 - - Germline - 14/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 14 Johan den Dunnen
-/. 6i c.655-23T>G r.(?) p.(=) Unknown - benign g.39922042A>C g.39920422A>C 535-23T>G - PDS5A_000002 - - - rs28419175 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 7 c.732T>C r.(?) p.(=) Unknown - benign g.39921942A>G g.39920322A>G 612T>C - PDS5A_000003 - PubMed: Zhang 2009 - - Germline - 85/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 85 Johan den Dunnen
-/. 7 c.732T>C r.(?) p.(=) Unknown - benign g.39921942A>G g.39920322A>G 612T>C - PDS5A_000003 - - - rs28449663 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 8i c.877-108C>G r.(?) p.(=) Unknown - benign g.39915454G>C g.39913834G>C 757-108C>G - PDS5A_000004 - PubMed: Zhang 2009 - - Germline - 62/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 62 Johan den Dunnen
-/. 8i c.877-108C>G r.(?) p.(=) Unknown - benign g.39915454G>C g.39913834G>C 757-108C>G - PDS5A_000004 - - - rs11725674 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 12i c.1386-24T>A r.(?) p.(=) Unknown - benign g.39904104A>T g.39902484A>T 1266-24T>A - PDS5A_000006 - PubMed: Zhang 2009 - - Germline - 3/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 3 Johan den Dunnen
-/. 13i c.1499+43C>T r.(?) p.(=) Unknown - benign g.39903924G>A g.39902304G>A 1379+43C>T - PDS5A_000007 - PubMed: Zhang 2009 - - Germline - 18/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 18 Johan den Dunnen
?/. - c.1507A>G r.(?) p.(Asn503Asp) Unknown - VUS g.39902120T>C g.39900500T>C - - PDS5A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 20i c.2277+35C>T r.(?) p.(=) Unknown - benign g.39875874G>A g.39874254G>A 2157+35C>T - PDS5A_000005 - PubMed: Zhang 2009 - - Germline - 18/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 18 Johan den Dunnen
-/. 20i c.2277+35C>T r.(?) p.(=) Unknown - benign g.39875874G>A g.39874254G>A 2157+35C>T - PDS5A_000005 - - - rs28546862 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 25 c.2772G>A r.(?) p.(=) Unknown - benign g.39864688C>T g.39863068C>T 2652G>A - PDS5A_000008 - PubMed: Zhang 2009 - - Germline - 1/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 1 Johan den Dunnen
-/. 28 c.3232G>A r.(?) p.(Val1038Ile) Unknown - benign g.39850578C>T g.39848958C>T 3112G>A - PDS5A_000009 - PubMed: Zhang 2009 - - Germline - 1/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 1 Johan den Dunnen
-/. 28i c.3339+27A>G r.(?) p.(=) Unknown - benign g.39850444T>C g.39848824T>C 3219+27A>G - PDS5A_000010 - PubMed: Zhang 2009 - - Germline - 3/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 3 Johan den Dunnen
-/. 29i c.3403-54A>G r.(?) p.(=) Unknown - benign g.39846475T>C g.39844855T>C 3283-54A>G - PDS5A_000011 - PubMed: Zhang 2009 - - Germline - 1/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 1 Johan den Dunnen
-/. 32i c.4011-20G>A r.(?) p.(=) Unknown - benign g.39827128C>T g.39825508C>T 3891-20G>A - PDS5A_000012 - PubMed: Zhang 2009 - - Germline - 1/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 1 Johan den Dunnen
-/. 33 c.*204G>C r.(?) p.(=) Unknown - benign g.39826901C>G g.39825281C>G *204G>C - PDS5A_000013 - PubMed: Zhang 2009 - - Germline - 1/228 - 0 - DNA SEQ - - CDLS 19412548-Pat PubMed: Zhang 2009 - - - United States - - 0 - - 1 Johan den Dunnen
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