Full data view for gene PSAT1

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

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-12G>C r.(?) p.(=) Unknown - benign g.80912115G>C g.78297199G>C PSAT1(NM_058179.3):c.-12G>C - PSAT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1A>G r.(?) p.(Asp2_Met42del) Both (homozygous) - pathogenic (recessive) g.80912127A>G g.78297211A>G - - PSAT1_000009 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NLS-2 - - - F yes Iran - 00y00m27d01h 0 - - 1 Fatima Abdelfattah
+/. - c.1A>G r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.80912127A>G g.78297211A>G - - PSAT1_000009 - - - - Germline - - - 0 - DNA SEQ - - NLS-2 - - - F yes Iran - 00y00m05d00h - - - 1 Fatima Abdelfattah
+?/. - c.43G>C r.(?) p.(Ala15Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.60+2dup r.spl? p.? Unknown - pathogenic g.80912188dup - PSAT1(NM_058179.3):c.60+2dupT - PSAT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.129T>G r.(?) p.(Ser43Arg) Both (homozygous) - pathogenic (recessive) g.80916877T>G g.78301961T>G - - PSAT1_000017 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - - PSATD - - - M yes Turkey - >04y 0 - - 1 Fatima Abdelfattah
+/. - c.129T>G r.(?) p.(Ser43Arg) Both (homozygous) - 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 - DNA SEQ-NG - No gene analysis in this patient, but it is presumably, because he was the brother of the screened individual #00300229 PSATD - - - M yes Turkey - 06y06m00d00h - - - 1 Fatima Abdelfattah
+?/. 3 c.181C>T r.(?) p.(Arg61Trp) Maternal (confirmed) - pathogenic (recessive) g.80916929C>T g.78302013C>T - - PSAT1_000010 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NLS-2 - - - F - Germany - - 0 - - 1 Fatima Abdelfattah
+/. - c.181C>T r.(?) p.(Arg61Trp) Maternal (confirmed) - pathogenic (recessive) g.80916929C>T g.78302013C>T - - PSAT1_000010 - - - - Germline - - - 0 - DNA SEQ - the pregnancy was terminated owing the screening NLS-2 - - The pregerancy was terminated, he was the brother of individual #0295968 and he had the same variants in PSAT1 as his sister. M no Germany Caucasian - - - - 1 Fatima Abdelfattah
+?/. 4 c.235G>T r.(?) p.(Gly79Trp) Both (homozygous) - pathogenic (recessive) g.80919694G>T g.78304778G>T - - PSAT1_000011 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NLS-2 - - - F yes Germany - - 0 - - 1 Fatima Abdelfattah
+/. - c.296C>T r.(?) p.(Ala99Val) Paternal (confirmed) - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 - - - - Germline - - - 0 - DNA SEQ - the pregnancy was terminated owing the screening NLS-2 - - The pregerancy was terminated, he was the brother of individual #0295968 and he had the same variants in PSAT1 as his sister. M no Germany Caucasian - - - - 1 Fatima Abdelfattah
+/. - c.296C>T r.(?) p.(Ala99Val) Paternal (confirmed) - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - this individual was compound heterozygous. The confirmed maternal allel was c.181C>, T g.80916929C>, T p.(Arg61Trp) and the confirmed paternal allel was c.296C>, T g:80919755C>, T p.(Ala99Val) NLS-2 - - - F - Germany - - 0 - - 1 Fatima Abdelfattah
+/. - c.296C>T r.(?) p.(Ala99Val) Parent #2 - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 - - - - Germline - - - 0 - DNA SEQ - the individual was compound heterozygous and the second allel was c.296C>, T g.80919755C>, T p.(Ala99Val) NLS-2 - - - M no United States - 00y00m05d00h 0 - - 1 Fatima Abdelfattah
+/. - c.296C>T r.(?) p.(Ala99Val) Both (homozygous) - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 - - - - Germline - - - 0 - DNA SEQ - - NLS-2 - - - M yes Belgium Arab 00y00m01d00h - - - 1 Fatima Abdelfattah
+/. - c.296C>T r.(?) p.(Ala99Val) Maternal (confirmed) - 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 - DNA SEQ - - NLS-2 - - - F no Ireland - 00y00m07d01h - - - 1 Fatima Abdelfattah
-/. - c.297T>G r.(?) p.(Ala99=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. - c.299A>C r.(?) p.(Asp100Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. - c.299A>C r.(?) p.(Asp100Ala) Unknown - likely pathogenic g.80919758A>C - PSAT1(NM_058179.3):c.299A>C (p.D100A) - PSAT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393T>C r.(?) p.(Tyr131=) Unknown - likely benign g.80919852T>C - PSAT1(NM_058179.3):c.393T>C (p.Y131=) - PSAT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.420G>A r.(?) p.(Trp140*) Unknown - likely pathogenic g.80921252G>A - PSAT1(NM_058179.3):c.420G>A (p.W140*) - PSAT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.463G>C r.(?) p.(Glu155Gln) Parent #1 - pathogenic (recessive) g.80921295G>C g.78306379G>C - - PSAT1_000014 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NLS-2 - - - F no Ireland - 00y00m01d00h 0 - - 1 Fatima Abdelfattah
-?/. - c.468G>A r.(?) p.(Thr156=) Unknown - likely benign g.80921300G>A - PSAT1(NM_058179.3):c.468G>A (p.T156=) - PSAT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.571-19A>T r.(=) p.(=) Unknown - likely benign g.80923311A>T - PSAT1(NM_058179.3):c.571-19A>T - PSAT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.571-4dup r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.571-4dup r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.733T>C r.(?) p.(Cys245Arg) Both (homozygous) - pathogenic (recessive) g.80923492T>C g.78308576T>C - - PSAT1_000013 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NLS-2 - - - M yes ? (unknown) - - 0 - - 1 Fatima Abdelfattah
-/. - c.741-18T>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.793G>A r.(?) p.(Ala265Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.870-1G>T r.spl p.0? Parent #1 - 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 - DNA SEQ, SEQ-NG - - NLS-2 - - - M no United States - 00y00m05d00h 0 - - 1 Fatima Abdelfattah
+?/. - c.870-1G>T r.spl p.? Parent #2 - pathogenic (recessive) g.80943896G>T g.78328980G>T - - PSAT1_000012 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NLS-2 - - - F no Ireland - 00y00m01d00h 0 - - 1 Fatima Abdelfattah
+/. - c.870-1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.80943896G>T g.78328980G>T - - PSAT1_000012 - - - - Germline - - - 0 - DNA SEQ - the variant was identified in heterozygous state in both parents and so it is presumably to be homozygous in patient NLS-2 - - individual was IUFD (stillbirth at 35w) F - Spain Caucasian <00y00m00d 0 - - 1 Fatima Abdelfattah
?/. - c.899A>G r.(?) p.(Tyr300Cys) Unknown - VUS g.80943926A>G - PSAT1(NM_058179.3):c.1037A>G (p.Y346C) - PSAT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.921C>T r.(?) p.(Asp307=) Unknown - likely benign g.80943948C>T - PSAT1(NM_058179.3):c.1059C>T (p.D353=) - PSAT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.956del r.(?) p.(Leu319Trpfs*67) Both (homozygous) - pathogenic (recessive) g.80943983del g.78329067del 955delA - PSAT1_000015 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NLS-2 Pat15a 2-generation family, 2 affected brothers - M no Tuvalu - 00y00m00d01h 0 - - 2 Fatima Abdelfattah
+/. - c.956del r.(?) p.(Leu319Trpfs*67) Both (homozygous) - pathogenic (recessive) g.80943983del g.78329067del - - PSAT1_000015 - - - - Germline - - - 0 - DNA SEQ - The pregenancy was terminated NLS-2 - - brother of #00295973, pregnancy terminated owing the same validated variants as in his brother and he has the same phenotype on antenatal ultrasound M ? New Zealand Tuvalu <00y00m00d 0 - - 1 Fatima Abdelfattah
Legend   How to query