Unique variants in the PSAT1 gene

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

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Reported     

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     
-/. 1 - 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 - - - - - VKGL-NL_Groningen
+/., +?/. 2 1 c.1A>G r.(?) p.(Asp2_Met42del), p.0? - pathogenic (recessive) g.80912127A>G g.78297211A>G - - PSAT1_000009 - - - - Germline - - - - - Fatima Abdelfattah
+?/. 1 - 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
+/. 1 - 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
+/. 2 - c.129T>G r.(?) p.(Ser43Arg) - pathogenic (recessive) g.80916877T>G g.78301961T>G - - PSAT1_000017 1 more item - - - Germline - - - - - Fatima Abdelfattah
+/., +?/. 2 3 c.181C>T r.(?) p.(Arg61Trp) - pathogenic (recessive) g.80916929C>T g.78302013C>T - - PSAT1_000010 - - - - Germline - - - - - Fatima Abdelfattah
+?/. 1 4 c.235G>T r.(?) p.(Gly79Trp) - pathogenic (recessive) g.80919694G>T g.78304778G>T - - PSAT1_000011 - - - - Germline - - - - - Fatima Abdelfattah
+/. 5 - c.296C>T r.(?) p.(Ala99Val) - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 1 more item - - - Germline - - - - - Fatima Abdelfattah
-/. 1 - 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 - - - - - VKGL-NL_Groningen
+?/. 2 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - 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
+?/. 1 - 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
+?/. 1 5 c.463G>C r.(?) p.(Glu155Gln) - pathogenic (recessive) g.80921295G>C g.78306379G>C - - PSAT1_000014 - - - - Germline - - - - - Fatima Abdelfattah
-?/. 1 - 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
-?/. 1 - 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
-?/. 2 - 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_Groningen, VKGL-NL_Utrecht
+?/. 1 6 c.733T>C r.(?) p.(Cys245Arg) - pathogenic (recessive) g.80923492T>C g.78308576T>C - - PSAT1_000013 - - - - Germline - - - - - Fatima Abdelfattah
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - 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
+/., +?/. 3 - c.870-1G>T r.spl p.0?, p.? - pathogenic (recessive) g.80942966G>T, g.80943896G>T g.78328980G>T - - PSAT1_000012 1 more item - - - Germline - - - - - Fatima Abdelfattah
?/. 1 - 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
-?/. 1 - 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
+/., +?/. 2 8 c.956del r.(?) p.(Leu319Trpfs*67) - pathogenic (recessive) g.80943983del g.78329067del 955delA - PSAT1_000015 - - - - Germline - - - - - Fatima Abdelfattah
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