Unique variants in gene PDSS1

Information The variants shown are described using the NM_014317.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Reported     

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     
-?/. 1 - c.36C>T likely benign r.(?) p.(=) g.26986676C>T - PDSS1(NM_014317.4):c.36C>T (p.C12=) - ABI1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.89G>T likely benign, benign r.(?) p.(Gly30Val) g.26986729G>T - PDSS1(NM_014317.4):c.89G>T (p.G30V) - PDSS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
-?/. 1 - c.106G>A likely benign r.(?) p.(Ala36Thr) g.26986746G>A - PDSS1(NM_014317.4):c.106G>A (p.A36T) - PDSS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.124G>A likely benign r.(?) p.(Ala42Thr) g.26986764G>A - PDSS1(NM_014317.4):c.124G>A (p.A42T) - PDSS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.129+45C>G - r.(=) p.(=) g.26986814C>G g.26697885C>G - - PDSS1_000003 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.162+13A>G benign r.(=) p.(=) g.26991136A>G - PDSS1(NM_014317.4):c.162+13A>G - PDSS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.162+59A>T - r.(=) p.(=) g.26991182A>T g.26702253A>T - - PDSS1_000001 - - - rs117919256 Germline - - - - - Andreas Laner
-/. 2 - c.163-5del benign r.spl? p.? g.26993601del - PDSS1(NM_014317.4):c.163-5delT - PDSS1_000008, PDSS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.337-66del benign r.(=) p.(=) g.26998501del - PDSS1(NM_014317.4):c.337-66delA - PDSS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.407T>G - r.(?) p.(Phe136Cys) g.26998637T>G g.26709708T>G - - PDSS1_000002 - - - - Germline - - - - - Andreas Laner
-?/. 2 - c.589A>G likely benign r.(?) p.(Lys197Glu) g.27009268A>G - PDSS1(NM_001321979.1):c.79A>G (p.K27E), PDSS1(NM_014317.4):c.589A>G (p.K197E) - PDSS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 1 - c.610-53A>G benign r.(=) p.(=) g.27012682A>G - PDSS1(NM_014317.4):c.610-53A>G - PDSS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.686C>G VUS r.(?) p.(Ser229Cys) g.27012811C>G - PDSS1(NM_001321979.1):c.176C>G (p.S59C) - ABI1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.760G>C VUS r.(?) p.(Glu254Gln) g.27012981G>C - PDSS1(NM_001321979.1):c.250G>C (p.E84Q) - ABI1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1027-10_1027-6del VUS r.(=) p.(=) g.27031416_27031420del - PDSS1(NM_014317.3):c.1027-12_1027-8del (p.(=)) - PDSS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1055G>A VUS r.(?) p.(Arg352Gln) g.27031454G>A - PDSS1(NM_001321979.1):c.545G>A (p.R182Q) - PDSS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1107+42C>T benign r.(=) p.(=) g.27031548C>T - PDSS1(NM_014317.4):c.1107+42C>T - PDSS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1108-9_1108-6dup benign r.(=) p.(=) g.27035253_27035256dup - PDSS1(NM_014317.4):c.1108-10_1108-7dupTATC - ABI1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1138G>A VUS r.(?) p.(Ala380Thr) g.27035292G>A - PDSS1(NM_014317.3):c.1138G>A (p.(Ala380Thr)) - PDSS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*2210T>C VUS r.(=) p.(=) g.27037612T>C - ABI1(NM_001012750.2):c.1333A>G (p.(Ile445Val)) - ABI1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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