Unique variants in gene PDYN

Information The variants shown are described using the NM_024411.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.-19-1G>C likely benign r.spl? p.? g.1963750C>G - PDYN(NM_024411.4):c.-19-1G>C - PDYN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.74G>A likely benign r.(?) p.(Arg25Gln) g.1963657C>T - PDYN(NM_001190898.2):c.74G>A (p.R25Q) - PDYN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.106G>T likely benign r.(?) p.(Gly36Cys) g.1963625C>A - PDYN(NM_024411.4):c.106G>T (p.G36C) - PDYN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.121A>G VUS r.(?) p.(Asn41Asp) g.1963610T>C - PDYN(NM_024411.4):c.121A>G (p.N41D) - PDYN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 2 - c.405C>T likely benign, VUS r.(?) p.(=) g.1961329G>A - PDYN(NM_024411.4):c.405C>T (p.D135=) - PDYN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.414G>T VUS r.(?) p.(Arg138Ser) g.1961320C>A - - - PDYN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.436A>C likely benign r.(?) p.(Met146Leu) g.1961298T>G - PDYN(NM_001190898.2):c.436A>C (p.M146L), PDYN(NM_024411.4):c.436A>C (p.M146L) - PDYN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.575A>T benign r.(?) p.(Glu192Val) g.1961159T>A - PDYN(NM_024411.4):c.575A>T (p.E192V) - PDYN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.600T>C benign r.(?) p.(=) g.1961134A>G - PDYN(NM_024411.4):c.600T>C (p.H200=) - PDYN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen, VKGL-NL_Rotterdam
?/. 1 - c.610T>C VUS r.(?) p.(Tyr204His) g.1961124A>G - PDYN(NM_024411.4):c.610T>C (p.Y204H) - PDYN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.616C>T VUS r.(?) p.(Arg206Cys) g.1961118G>A - PDYN(NM_024411.4):c.616C>T (p.R206C) - PDYN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.632T>G likely pathogenic r.(?) p.(Leu211Trp) g.1961102A>C - PDYN(NM_024411.4):c.632T>G (p.L211W) - PDYN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 4 c.647C>T - r.(?) p.(Pro216Leu) g.1961087G>A g.1980441G>A - - PDYN_000001 - - - - Germline - - - - - Claire Guissart
?/., +/. 3 4 c.658_659del VUS, ACMG: 3 r.(?) p.(Trp220Glyfs*33), p.Trp220Glyfs*33 g.1961076_1961077del, g.1961075_1961076del g.1980429_1980430del PDYN(NM_024411.4):c.658_659delTG (p.W220Gfs*33), 658_659delTG - PDYN_000002 VKGL data sharing initiative Nederland, reported in Jezierska ; 2013. J Neurol 260: 1807-12 - - rs748307861 CLASSIFICATION record, Germline - - - - - VKGL-NL, Claire Guissart, Andreas Laner
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