All variants in the SLC33A1 gene

Information The variants shown are described using the NM_004733.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.75G>C r.(?) p.(Met25Ile) - likely benign g.155571712C>G g.155853923C>G SLC33A1(NM_004733.3):c.75G>C (p.M25I) - SLC33A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.136G>A r.(?) p.(Glu46Lys) - likely benign g.155571651C>T g.155853862C>T SLC33A1(NM_004733.3):c.136G>A (p.E46K) - SLC33A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.136G>A r.(?) p.(Glu46Lys) - benign g.155571651C>T g.155853862C>T SLC33A1(NM_004733.3):c.136G>A (p.E46K) - SLC33A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.169G>C r.(?) p.(Gly57Arg) - likely benign g.155571618C>G - SLC33A1(NM_004733.3):c.169G>C (p.G57R) - SLC33A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.280A>T r.(?) p.(Ser94Cys) - VUS g.155571507T>A - SLC33A1(NM_004733.3):c.280A>T (p.S94C) - SLC33A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.288A>C r.(?) p.(Pro96=) - likely benign g.155571499T>G g.155853710T>G SLC33A1(NM_004733.3):c.288A>C (p.P96=) - SLC33A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? ? c.328G>C r.(?) p.(Ala110Pro) - pathogenic g.155571459C>G g.155853670C>G - - SLC33A1_000001 submitted through SIB; ExPASy_067915 PubMed: Huppke 2012 - - Unknown - - - 0 - SIB - Livia Famiglietti
+/? ? c.339T>G r.(?) p.(Ser113Arg) - pathogenic g.155571448A>C g.155853659A>C - - SLC33A1_000002 submitted through SIB; ExPASy_054850; {dbSNP121909484} PubMed: Lin 2008 - - Unknown - - - 0 - SIB - Livia Famiglietti
?/. - c.370C>T r.(?) p.(Leu124Phe) - VUS g.155571417G>A - SLC33A1(NM_004733.3):c.370C>T (p.L124F) - SLC33A1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.574A>G r.(?) p.(Thr192Ala) - VUS g.155571213T>C g.155853424T>C SLC33A1(NM_001190992.1):c.574A>G (p.(Thr192Ala)) - SLC33A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.687T>C r.(?) p.(Asn229=) - likely benign g.155571100A>G g.155853311A>G SLC33A1(NM_004733.3):c.687T>C (p.N229=) - SLC33A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.972T>C r.(?) p.(Phe324=) - likely benign g.155551822A>G g.155834033A>G SLC33A1(NM_004733.3):c.972T>C (p.F324=) - SLC33A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1149-8C>G r.(=) p.(=) - likely benign g.155551382G>C g.155833593G>C SLC33A1(NM_001190992.1):c.1149-8C>G (p.(=)) - SLC33A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1177C>G r.(?) p.(Leu393Val) - VUS g.155551346G>C g.155833557G>C SLC33A1(NM_004733.3):c.1177C>G (p.L393V) - SLC33A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1192C>T r.(?) p.(Pro398Ser) - VUS g.155551331G>A g.155833542G>A SLC33A1(NM_004733.3):c.1192C>T (p.P398S) - SLC33A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1294A>C r.(?) p.(Ile432Leu) - likely benign g.155547665T>G g.155829876T>G SLC33A1(NM_004733.3):c.1294A>C (p.I432L) - SLC33A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1434G>A r.(?) p.(Glu478=) - likely benign g.155547525C>T g.155829736C>T SLC33A1(NM_004733.3):c.1434G>A (p.E478=) - SLC33A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1451A>C r.(?) p.(Asn484Thr) - likely benign g.155547508T>G g.155829719T>G SLC33A1(NM_001190992.1):c.1451A>C (p.(Asn484Thr)), SLC33A1(NM_004733.3):c.1451A>C (p.N484T) - SLC33A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1451A>C r.(?) p.(Asn484Thr) - likely benign g.155547508T>G g.155829719T>G SLC33A1(NM_001190992.1):c.1451A>C (p.(Asn484Thr)), SLC33A1(NM_004733.3):c.1451A>C (p.N484T) - SLC33A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1466C>T r.(?) p.(Thr489Ile) - VUS g.155547493G>A g.155829704G>A SLC33A1(NM_004733.3):c.1466C>T (p.T489I) - SLC33A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1487G>C r.(?) p.(Cys496Ser) - VUS g.155546162C>G g.155828373C>G SLC33A1(NM_004733.3):c.1487G>C (p.C496S) - SLC33A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1487G>C r.(?) p.(Cys496Ser) - VUS g.155546162C>G g.155828373C>G SLC33A1(NM_004733.3):c.1487G>C (p.C496S) - SLC33A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1525G>A r.(?) p.(Gly509Ser) - benign g.155546124C>T g.155828335C>T - - SLC33A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1569T>C r.(?) p.(Gly523=) - likely benign g.155546080A>G g.155828291A>G SLC33A1(NM_004733.3):c.1569T>C (p.G523=) - SLC33A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1648T>G r.(?) p.(Ter550GluextTer8) - VUS g.155546001A>C g.155828212A>C SLC33A1(NM_004733.3):c.1648T>G (p.*550Eext*8) - SLC33A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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