All variants in the SNAP29 gene

Information The variants shown are described using the NM_004782.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-2374112_*588438dup r.? p.? - pathogenic (recessive) g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
./. - c.-2324360_*221995del r.0? p.0? - pathogenic (recessive) g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
./. - c.-2319836_*221995del r.0? p.0? - pathogenic (recessive) g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
./. - c.-2190236_*221995del r.0? p.0? - pathogenic (recessive) g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-/. - c.-433_-422del r.(?) p.(=) - benign g.21212966_21212977del - PI4KA(NM_058004.3):c.42_53delAGGCGGCGGCGG (p.G15_G18del) - PI4KA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-418_-407dup r.(?) p.(=) - benign g.21212981_21212992dup g.20858693_20858704dup PI4KA(NM_058004.3):c.36_47dupAGGCGGAGGCGG (p.G15_G18dup) - PI4KA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-412_-407del r.(?) p.(=) - benign g.21212987_21212992del g.20858699_20858704del PI4KA(NM_058004.3):c.42_47del (p.(Gly17_Gly18del)), PI4KA(NM_058004.3):c.42_47delAGGCGG (p.G17_G18del) - PI4KA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-412_-407del r.(?) p.(=) - VUS g.21212987_21212992del g.20858699_20858704del PI4KA(NM_058004.3):c.42_47del (p.(Gly17_Gly18del)), PI4KA(NM_058004.3):c.42_47delAGGCGG (p.G17_G18del) - PI4KA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-412_-407dup r.(?) p.(=) - VUS g.21212987_21212992dup g.20858699_20858704dup PI4KA(NM_058004.3):c.42_47dupAGGCGG (p.G17_G18dup), PI4KA(NM_058004.3):c.47_48insAGGCGG (p.(Gly15_Gly16dup)), PI4KA(NM_058004.4):c.42_47dupAGGCGG ... - PI4KA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.-412_-407dup r.(?) p.(=) - benign g.21212987_21212992dup g.20858699_20858704dup PI4KA(NM_058004.3):c.42_47dupAGGCGG (p.G17_G18dup), PI4KA(NM_058004.3):c.47_48insAGGCGG (p.(Gly15_Gly16dup)), PI4KA(NM_058004.4):c.42_47dupAGGCGG ... - PI4KA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-412_-407dup r.(?) p.(=) - benign g.21212987_21212992dup g.20858699_20858704dup PI4KA(NM_058004.3):c.42_47dupAGGCGG (p.G17_G18dup), PI4KA(NM_058004.3):c.47_48insAGGCGG (p.(Gly15_Gly16dup)), PI4KA(NM_058004.4):c.42_47dupAGGCGG ... - PI4KA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-19C>T r.(?) p.(=) - benign g.21213380C>T g.20859092C>T SNAP29(NM_004782.3):c.-19C>T, SNAP29(NM_004782.4):c.-19C>T - PI4KA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-19C>T r.(?) p.(=) - benign g.21213380C>T g.20859092C>T SNAP29(NM_004782.3):c.-19C>T, SNAP29(NM_004782.4):c.-19C>T - PI4KA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-8C>G r.(?) p.(=) - benign g.21213391C>G g.20859103C>G SNAP29(NM_004782.3):c.-8C>G - SNAP29_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-5G>A r.(?) p.(=) - benign g.21213394G>A g.20859106G>A SNAP29(NM_004782.3):c.-5G>A - SNAP29_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.18A>G r.(?) p.(Lys6=) - benign g.21213416A>G g.20859128A>G SNAP29(NM_004782.3):c.18A>G (p.K6=), SNAP29(NM_004782.4):c.18A>G (p.K6=) - SNAP29_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.18A>G r.(?) p.(Lys6=) - benign g.21213416A>G g.20859128A>G SNAP29(NM_004782.3):c.18A>G (p.K6=), SNAP29(NM_004782.4):c.18A>G (p.K6=) - SNAP29_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.91C>T r.(?) p.(Leu31Phe) - likely benign g.21213489C>T g.20859201C>T SNAP29(NM_004782.3):c.91C>T (p.L31F) - PI4KA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.130T>C r.(?) p.(Tyr44His) - benign g.21213528T>C g.20859240T>C SNAP29(NM_004782.3):c.130T>C (p.Y44H) - PI4KA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.223del r.(?) p.(Val75Serfs*28) ACMG pathogenic g.21213621del g.20859333del - - SNAP29_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
-?/. - c.234C>G r.(?) p.(Ser78=) - likely benign g.21213632C>G g.20859344C>G SNAP29(NM_004782.3):c.234C>G (p.S78=) - SNAP29_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.259G>A r.(?) p.(Val87Ile) - VUS g.21224646G>A g.20870358G>A SNAP29(NM_004782.3):c.259G>A (p.V87I) - SNAP29_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.265G>A r.(?) p.(Glu89Lys) - benign g.21224652G>A g.20870364G>A SNAP29(NM_004782.3):c.265G>A (p.E89K) - SNAP29_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.271A>G r.(?) p.(Thr91Ala) - VUS g.21224658A>G g.20870370A>G SNAP29(NM_004782.3):c.271A>G (p.T91A) - SNAP29_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.362A>G r.(?) p.(Asn121Ser) - VUS g.21224749A>G g.20870461A>G SNAP29(NM_004782.3):c.362A>G (p.N121S) - SNAP29_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.487A>G r.(?) p.(Ser163Gly) - VUS g.21235389A>G g.20881101A>G SNAP29(NM_004782.3):c.487A>G (p.S163G) - SNAP29_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.487A>G r.(?) p.(Ser163Gly) - likely benign g.21235389A>G g.20881101A>G - - SNAP29_000009 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116892729 Germline - 16/2795 individuals - 0 - Mohammed Faruq
+/. 3 c.487dup r.(?) p.(Ser163LysfsTer6) - pathogenic g.21235389dup g.20881101dup - - SNAP29_000012 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.521A>G r.(?) p.(Asp174Gly) - likely benign g.21237759A>G g.20883471A>G SNAP29(NM_004782.3):c.521A>G (p.D174G) - SNAP29_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 4 c.586C>T r.(?) p.(Arg196Ter) - likely pathogenic g.21237824C>T g.20883536C>T - - SNAP29_000016 - 0 - - Germline - - - 0 - LOVD
-?/. - c.620-4G>A r.spl? p.? - likely benign g.21241963G>A g.20887675G>A SNAP29(NM_004782.3):c.620-4G>A - SNAP29_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*2551G>A r.(=) p.(=) - VUS g.21244675G>A g.20890387G>A - - SNAP29_000015 92 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73162856 Germline - 92/2793 individuals - 0 - Mohammed Faruq
?/. - c.*2551G>A r.(=) p.(=) - VUS g.21244675G>A g.20890387G>A - - SNAP29_000015 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73162856 Germline - 1/2793 individuals - 0 - Mohammed Faruq
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