All transcript variants in gene PDYN

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

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     
-?/. - c.-19-1G>C r.spl? p.? - likely benign g.1963750C>G g.1983104C>G PDYN(NM_024411.4):c.-19-1G>C - PDYN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.74G>A r.(?) p.(Arg25Gln) - likely benign g.1963657C>T g.1983011C>T PDYN(NM_001190898.2):c.74G>A (p.R25Q), PDYN(NM_024411.4):c.74G>A (p.R25Q) - PDYN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.74G>A r.(?) p.(Arg25Gln) - - g.1963657C>T - PDYN(NM_001190898.2):c.74G>A (p.R25Q), PDYN(NM_024411.4):c.74G>A (p.R25Q) - PDYN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.106G>T r.(?) p.(Gly36Cys) - likely benign g.1963625C>A g.1982979C>A PDYN(NM_024411.4):c.106G>T (p.G36C) - PDYN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.121A>G r.(?) p.(Asn41Asp) - VUS g.1963610T>C g.1982964T>C PDYN(NM_024411.4):c.121A>G (p.N41D) - PDYN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.405C>T r.(?) p.(Asp135=) - likely benign g.1961329G>A g.1980683G>A PDYN(NM_024411.4):c.405C>T (p.D135=) - PDYN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.405C>T r.(?) p.(Asp135=) - VUS g.1961329G>A g.1980683G>A PDYN(NM_024411.4):c.405C>T (p.D135=) - PDYN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.414G>T r.(?) p.(Arg138Ser) - VUS g.1961320C>A g.1980674C>A - - PDYN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.436A>C r.(?) p.(Met146Leu) - likely benign g.1961298T>G g.1980652T>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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.436A>C r.(?) p.(Met146Leu) - likely benign g.1961298T>G g.1980652T>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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.483_484del r.(?) p.(Tyr162Serfs*3) - VUS g.1961252_1961253del g.1980606_1980607del - - PDYN_000017 - - - - Germline - - - 0 - Andreas Laner
-/. - c.575A>T r.(?) p.(Glu192Val) - benign g.1961159T>A g.1980513T>A PDYN(NM_024411.4):c.575A>T (p.E192V) - PDYN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.600T>C r.(?) p.(His200=) - benign g.1961134A>G g.1980488A>G PDYN(NM_024411.4):c.600T>C (p.H200=) - PDYN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.600T>C r.(?) p.(His200=) - benign g.1961134A>G g.1980488A>G PDYN(NM_024411.4):c.600T>C (p.H200=) - PDYN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.600T>C r.(?) p.(His200=) - benign g.1961134A>G g.1980488A>G PDYN(NM_024411.4):c.600T>C (p.H200=) - PDYN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.610T>C r.(?) p.(Tyr204His) - VUS g.1961124A>G g.1980478A>G PDYN(NM_024411.4):c.610T>C (p.Y204H) - PDYN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.616C>T r.(?) p.(Arg206Cys) - VUS g.1961118G>A g.1980472G>A PDYN(NM_024411.4):c.616C>T (p.R206C) - PDYN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.632T>G r.(?) p.(Leu211Trp) - likely pathogenic g.1961102A>C g.1980456A>C PDYN(NM_024411.4):c.632T>G (p.L211W) - PDYN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.634C>T r.(?) p.(Arg212Trp) - pathogenic g.1961100G>A g.1980454G>A - - PDYN_000016 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs201486601 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. - c.643C>T r.(?) p.(Arg215Cys) - pathogenic g.1961091G>A g.1980445G>A - - PDYN_000015 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs267606939 Germline - 1/2794 individuals - 0 - Mohammed Faruq
-?/. 4 c.647C>T r.(?) p.(Pro216Leu) - likely benign g.1961087G>A g.1980441G>A - - PDYN_000001 - - - - Germline - - - 0 - Claire Guissart
+/. 4 c.658_659del r.(?) p.(Trp220Glyfs*33) - pathogenic g.1961076_1961077del g.1980430_1980431del 658_659delTG - PDYN_000002 - - - - Germline - - - 0 - Claire Guissart
?/. - c.658_659del r.(?) p.(Trp220GlyfsTer33) - VUS g.1961076_1961077del g.1980430_1980431del PDYN(NM_024411.4):c.658_659delTG (p.W220Gfs*33) - PDYN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.658_659del r.(?) p.Trp220Glyfs*33 ACMG VUS g.1961076_1961077del g.1980430_1980431del - - PDYN_000002 reported in Jezierska ; 2013. J Neurol 260: 1807-12 - - rs748307861 Germline - - - 0 - Andreas Laner
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