All variants in the PSAT1 gene

Information The variants shown are described using the NM_021154.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.-12G>C r.(?) p.(=) - benign g.80912115G>C g.78297199G>C PSAT1(NM_058179.3):c.-12G>C - PSAT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. 1 c.1A>G r.(?) p.(Asp2_Met42del) - pathogenic (recessive) g.80912127A>G g.78297211A>G - - PSAT1_000009 - - - - Germline - - - 0 - Fatima Abdelfattah
+/. - c.1A>G r.(?) p.0? - pathogenic (recessive) g.80912127A>G g.78297211A>G - - PSAT1_000009 - - - - Germline - - - 0 - Fatima Abdelfattah
+?/. - c.43G>C r.(?) p.(Ala15Pro) - likely pathogenic g.80912169G>C g.78297253G>C PSAT1(NM_058179.3):c.43G>C (p.(Ala15Pro)) - PSAT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.60+2dup r.spl? p.? - pathogenic g.80912188dup - PSAT1(NM_058179.3):c.60+2dupT - PSAT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.129T>G r.(?) p.(Ser43Arg) - pathogenic (recessive) g.80916877T>G g.78301961T>G - - PSAT1_000017 - - - - Germline - - - 0 - Fatima Abdelfattah
+/. - c.129T>G r.(?) p.(Ser43Arg) - pathogenic (recessive) g.80916877T>G g.78301961T>G - - PSAT1_000017 no gene analysis performed, presumed to have same variant as brother (#00300229), had the same phenotype - - - Germline - - - 0 - Fatima Abdelfattah
+?/. 3 c.181C>T r.(?) p.(Arg61Trp) - pathogenic (recessive) g.80916929C>T g.78302013C>T - - PSAT1_000010 - - - - Germline - - - 0 - Fatima Abdelfattah
+/. - c.181C>T r.(?) p.(Arg61Trp) - pathogenic (recessive) g.80916929C>T g.78302013C>T - - PSAT1_000010 - - - - Germline - - - 0 - Fatima Abdelfattah
+?/. 4 c.235G>T r.(?) p.(Gly79Trp) - pathogenic (recessive) g.80919694G>T g.78304778G>T - - PSAT1_000011 - - - - Germline - - - 0 - Fatima Abdelfattah
+/. - c.296C>T r.(?) p.(Ala99Val) - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 - - - - Germline - - - 0 - Fatima Abdelfattah
+/. - c.296C>T r.(?) p.(Ala99Val) - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 - - - - Germline - - - 0 - Fatima Abdelfattah
+/. - c.296C>T r.(?) p.(Ala99Val) - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 - - - - Germline - - - 0 - Fatima Abdelfattah
+/. - c.296C>T r.(?) p.(Ala99Val) - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 - - - - Germline - - - 0 - Fatima Abdelfattah
+/. - c.296C>T r.(?) p.(Ala99Val) - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 we were not able to identify the second allele. We had just the maternal sample and FFPE from the index. Also it was impossible to have the paternal sample. The parents were separated - - - Germline - - - 0 - Fatima Abdelfattah
-/. - c.297T>G r.(?) p.(Ala99=) - benign g.80919756T>G g.78304840T>G PSAT1(NM_058179.3):c.297T>G (p.A99=) - PSAT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.299A>C r.(?) p.(Asp100Ala) - likely pathogenic g.80919758A>C g.78304842A>C PSAT1(NM_058179.3):c.299A>C (p.D100A) - PSAT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.299A>C r.(?) p.(Asp100Ala) - likely pathogenic g.80919758A>C - PSAT1(NM_058179.3):c.299A>C (p.D100A) - PSAT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.393T>C r.(?) p.(Tyr131=) - likely benign g.80919852T>C - PSAT1(NM_058179.3):c.393T>C (p.Y131=) - PSAT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.420G>A r.(?) p.(Trp140*) - likely pathogenic g.80921252G>A - PSAT1(NM_058179.3):c.420G>A (p.W140*) - PSAT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 5 c.463G>C r.(?) p.(Glu155Gln) - pathogenic (recessive) g.80921295G>C g.78306379G>C - - PSAT1_000014 - - - - Germline - - - 0 - Fatima Abdelfattah
-?/. - c.468G>A r.(?) p.(Thr156=) - likely benign g.80921300G>A - PSAT1(NM_058179.3):c.468G>A (p.T156=) - PSAT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.571-19A>T r.(=) p.(=) - likely benign g.80923311A>T - PSAT1(NM_058179.3):c.571-19A>T - PSAT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.571-4dup r.spl? p.? - likely benign g.80923326dup g.78308410dup PSAT1(NM_058179.3):c.571-3delAinsTA, PSAT1(NM_058179.3):c.571-4dupT - PSAT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.571-4dup r.spl? p.? - likely benign g.80923326dup g.78308410dup PSAT1(NM_058179.3):c.571-3delAinsTA, PSAT1(NM_058179.3):c.571-4dupT - PSAT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 6 c.733T>C r.(?) p.(Cys245Arg) - pathogenic (recessive) g.80923492T>C g.78308576T>C - - PSAT1_000013 - - - - Germline - - - 0 - Fatima Abdelfattah
-/. - c.741-18T>A r.(=) p.(=) - benign g.80932574T>A g.78317658T>A PSAT1(NM_058179.3):c.741-18T>A - PSAT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.793G>A r.(?) p.(Ala265Thr) - likely benign g.80932644G>A g.78317728G>A PSAT1(NM_021154.4):c.793G>A (p.(Ala265Thr)) - PSAT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.870-1G>T r.spl p.0? - pathogenic (recessive) g.80942966G>T g.78328980G>T - - PSAT1_000012 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. - - - Germline - - - 0 - Fatima Abdelfattah
+?/. - c.870-1G>T r.spl p.? - pathogenic (recessive) g.80943896G>T g.78328980G>T - - PSAT1_000012 - - - - Germline - - - 0 - Fatima Abdelfattah
+/. - c.870-1G>T r.spl p.? - pathogenic (recessive) g.80943896G>T g.78328980G>T - - PSAT1_000012 - - - - Germline - - - 0 - Fatima Abdelfattah
?/. - c.899A>G r.(?) p.(Tyr300Cys) - VUS g.80943926A>G - PSAT1(NM_058179.3):c.1037A>G (p.Y346C) - PSAT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.921C>T r.(?) p.(Asp307=) - likely benign g.80943948C>T - PSAT1(NM_058179.3):c.1059C>T (p.D353=) - PSAT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 8 c.956del r.(?) p.(Leu319Trpfs*67) - pathogenic (recessive) g.80943983del g.78329067del 955delA - PSAT1_000015 - - - - Germline - - - 0 - Fatima Abdelfattah
+/. - c.956del r.(?) p.(Leu319Trpfs*67) - pathogenic (recessive) g.80943983del g.78329067del - - PSAT1_000015 - - - - Germline - - - 0 - Fatima Abdelfattah
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