Unique variants in gene PDSS1

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

26 entries on 1 page. Showing entries 1 - 26.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.36C>T r.(?) p.(Cys12=) - likely benign g.26986676C>T g.26697747C>T PDSS1(NM_014317.4):c.36C>T (p.C12=) - ABI1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 2 - c.89G>T r.(?) p.(Gly30Val) - likely benign, benign g.26986729G>T g.26697800G>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 r.(?) p.(Ala36Thr) - likely benign g.26986746G>A g.26697817G>A PDSS1(NM_014317.4):c.106G>A (p.A36T) - PDSS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.124G>A r.(?) p.(Ala42Thr) - likely benign g.26986764G>A g.26697835G>A PDSS1(NM_014317.4):c.124G>A (p.A42T) - PDSS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.129+45C>G r.(=) p.(=) - VUS g.26986814C>G g.26697885C>G - - PDSS1_000003 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.130-54A>G r.(=) p.(=) - benign g.26991037A>G g.26702108A>G PDSS1(NM_001321979.1):c.-464-54A>G - ABI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.130-46T>C r.(=) p.(=) - benign g.26991045T>C g.26702116T>C PDSS1(NM_001321979.1):c.-464-46T>C - ABI1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.130-23del r.(=) p.(=) - benign g.26991068del g.26702139del PDSS1(NM_001321979.1):c.-464-23delG - ABI1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.130-10G>T r.(=) p.(=) - likely benign g.26991081G>T - PDSS1(NM_001321979.1):c.-464-10G>T - chr10_005115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.162+13A>G r.(=) p.(=) - benign g.26991136A>G g.26702207A>G PDSS1(NM_014317.4):c.162+13A>G - PDSS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.162+59A>T r.(=) p.(=) - benign g.26991182A>T g.26702253A>T - - PDSS1_000001 - - - rs117919256 Germline - - - - - Andreas Laner
-/. 2 - c.163-5del r.spl? p.? - benign g.26993601del g.26704672del 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 r.(=) p.(=) - benign g.26998501del g.26709572del PDSS1(NM_014317.4):c.337-66delA - PDSS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.407T>G r.(?) p.(Phe136Cys) - VUS g.26998637T>G g.26709708T>G - - PDSS1_000002 conflicting interpretations of pathogenicity; 48 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs77826284 Germline - 48/2794 individuals - - - Andreas Laner, Mohammed Faruq
-?/. 2 - c.589A>G r.(?) p.(Lys197Glu) - likely benign g.27009268A>G g.26720339A>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 r.(=) p.(=) - benign g.27012682A>G g.26723753A>G PDSS1(NM_014317.4):c.610-53A>G - PDSS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.686C>G r.(?) p.(Ser229Cys) - VUS g.27012811C>G g.26723882C>G PDSS1(NM_001321979.1):c.176C>G (p.S59C) - ABI1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.760G>C r.(?) p.(Glu254Gln) - VUS g.27012981G>C g.26724052G>C PDSS1(NM_001321979.1):c.250G>C (p.E84Q) - ABI1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1027-10_1027-6del r.(=) p.(=) - VUS g.27031416_27031420del g.26742487_26742491del PDSS1(NM_014317.3):c.1027-12_1027-8del (p.(=)) - PDSS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1055G>A r.(?) p.(Arg352Gln) - VUS g.27031454G>A g.26742525G>A PDSS1(NM_001321979.1):c.545G>A (p.R182Q) - PDSS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1107+42C>T r.(=) p.(=) - benign g.27031548C>T g.26742619C>T PDSS1(NM_014317.4):c.1107+42C>T - PDSS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1108-9_1108-6dup r.(=) p.(=) - benign g.27035253_27035256dup g.26746324_26746327dup PDSS1(NM_014317.4):c.1108-10_1108-7dupTATC - ABI1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1108-3T>C r.spl? p.? - likely benign g.27035259T>C - PDSS1(NM_001321979.1):c.598-3T>C - chr10_005116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1123_1124del r.(?) p.(Gln375AsnfsTer11) - VUS g.27035277_27035278del g.26746348_26746349del PDSS1(NM_014317.3):c.1122_1123del (p.(Gln375AsnfsTer11)) - PDSS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1138G>A r.(?) p.(Ala380Thr) - VUS g.27035292G>A g.26746363G>A PDSS1(NM_014317.3):c.1138G>A (p.(Ala380Thr)) - PDSS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*2210T>C r.(=) p.(=) - VUS g.27037612T>C g.26748683T>C ABI1(NM_001012750.2):c.1333A>G (p.(Ile445Val)) - ABI1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend