Full data view for gene TYMS

Information The variants shown are described using the NM_001071.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-6927_*2131132del r.0? p.0? Unknown - pathogenic g.650816_2804129del - - - SMCHD1_000093 mosaicism, hemizygous in 0.44 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.-58G>C r.(?) p.(?) Paternal (confirmed) - association g.657685G>C g.657685G>C - - TYMS_000003 associated with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs2853542 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.-58G>C r.(?) p.(?) Paternal (confirmed) - association g.657685G>C g.657685G>C - - TYMS_000003 associated with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs2853542 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam2 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
?/. - c.-58G>C r.(?) p.(?) Maternal (confirmed) - association g.657685G>C g.657685G>C - - TYMS_000003 associated with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs2853542 Germline yes - - - - DNA SEQ, SEQ-NG - WES DKC Fam3 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.-58G>C r.(?) p.(?) Maternal (confirmed) - association g.657685G>C g.657685G>C - - TYMS_000003 associated with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs2853542 Germline yes - - - - DNA SEQ, SEQ-NG - WES DKC Fam4PatII1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, affected brother/sister, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
?/. - c.-58G>C r.(?) p.(?) Maternal (confirmed) - association g.657685G>C g.657685G>C - - TYMS_000003 associated with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs2853542 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam4PatII2 PubMed: Tummala 2022, Journal: Tummala 2022 sister F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.-58G>C r.(?) p.(?) Maternal (confirmed) - association g.657685G>C g.657685G>C - - TYMS_000003 associated with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs2853542 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam5 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.-58_-31dup r.(?) p.(?) Paternal (confirmed) - association g.657685_657712dup g.657685_657712dup - - TYMS_000004 rs45445694-3R, association with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs45445694 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.-58_-31dup r.(?) p.(?) Paternal (confirmed) - association g.657685_657712dup g.657685_657712dup - - TYMS_000004 rs45445694-3R, association with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs45445694 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam2 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
?/. - c.-58_-31dup r.(?) p.(?) Maternal (confirmed) - association g.657685_657712dup g.657685_657712dup - - TYMS_000004 rs45445694-3R, association with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs45445694 Germline yes - - - - DNA SEQ, SEQ-NG - WES DKC Fam3 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.-58_-31dup r.(?) p.(?) Maternal (confirmed) - association g.657685_657712dup g.657685_657712dup - - TYMS_000004 rs45445694-3R, association with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs45445694 Germline yes - - - - DNA SEQ, SEQ-NG - WES DKC Fam4PatII1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, affected brother/sister, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
?/. - c.-58_-31dup r.(?) p.(?) Maternal (confirmed) - association g.657685_657712dup g.657685_657712dup - - TYMS_000004 rs45445694-3R, association with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs45445694 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam4PatII2 PubMed: Tummala 2022, Journal: Tummala 2022 sister F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.-58_-31dup r.(?) p.(?) Both (homozygous) - association g.657685_657712dup g.657685_657712dup - - TYMS_000004 rs45445694-3R, association with increased TYMS expression levels PubMed: Tummala 2022, Journal: Tummala 2022 - rs45445694 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam5 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.205+223G>T r.(=) p.(=) Both (homozygous) - pathogenic (recessive) g.658170G>T g.658170G>T - - C18orf56_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.259G>A r.(?) p.(Glu87Lys) Parent #1 - pathogenic g.659694G>A g.659694G>A - - TYMS_000005 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam6 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.343C>T r.(?) p.(Arg115Ter) Paternal (confirmed) - pathogenic g.662209C>T g.662209C>T - - TYMS_000006 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DKC Fam3 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.455-1525T>A r.(?) p.(?) Unknown - VUS (!) g.667547T>A g.667547T>A - - TYMS_000002 post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1 PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam8PatII1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 2 affected sistesr, unaffected heterozygous carrier parents F - Germany - - - - - 2 Johan den Dunnen
+/. - c.480A>T r.(?) p.(Gln160His) Paternal (confirmed) - pathogenic g.669097A>T g.669097A>T - - TYMS_000007 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam5 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.486_487del r.(?) p.(Arg163SerfsTer3) Maternal (confirmed) - pathogenic g.669103_669104del g.669103_669104del 486_487delAA - TYMS_000008 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.486_487del r.(?) p.(Arg163SerfsTer3) Paternal (confirmed) - pathogenic g.669103_669104del g.669103_669104del 486_487delAA - TYMS_000008 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam2 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
+/. - c.534_535insTG r.(?) p.(Met179Ter) Paternal (confirmed) - pathogenic g.669151_669152insTG g.669151_669152insTG - - TYMS_000009 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DKC Fam4PatII1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, affected brother/sister, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - c.534_535insTG r.(?) p.(Met179Ter) Paternal (confirmed) - pathogenic g.669151_669152insTG g.669151_669152insTG - - TYMS_000009 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam4PatII2 PubMed: Tummala 2022, Journal: Tummala 2022 sister F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.556+1G>A r.spl p.? Parent #1 - pathogenic g.669174G>A g.669174G>A - - TYMS_000010 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam7 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.811C>T r.(?) p.(Arg271Ter) Parent #1 - pathogenic g.672866C>T g.672866C>T - - TYMS_000011 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DKC Fam8PatII1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 2 affected sistesr, unaffected heterozygous carrier parents F - Germany - - - - - 2 Johan den Dunnen
+/. - c.811C>T r.(?) p.(Arg271Ter) Parent #1 - pathogenic g.672866C>T g.672866C>T - - TYMS_000011 - PubMed: Tummala 2022, Journal: Tummala 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DKC Fam8PatII2 PubMed: Tummala 2022, Journal: Tummala 2022 sister F - Germany - - - - - 1 Johan den Dunnen
?/. - c.*89A>G r.(?) p.(?) Paternal (confirmed) - VUS (!) g.673086A>G g.673086A>G - - TYMS_000001 - PubMed: Tummala 2022, Journal: Tummala 2022 - rs2790 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam5 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.*450_*455dup r.(?) p.(?) Both (homozygous) - VUS (!) g.673447_673452dup g.673447_673452dup - - TYMS_000012 - PubMed: Tummala 2022, Journal: Tummala 2022 - rs11280056 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.*450_*455dup r.(?) p.(?) Both (homozygous) - VUS (!) g.673447_673452dup g.673447_673452dup - - TYMS_000012 - PubMed: Tummala 2022, Journal: Tummala 2022 - rs11280056 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam2 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
?/. - c.*450_*455dup r.(?) p.(?) Maternal (confirmed) - VUS (!) g.673447_673452dup g.673447_673452dup - - TYMS_000012 - PubMed: Tummala 2022, Journal: Tummala 2022 - rs11280056 Germline yes - - - - DNA SEQ, SEQ-NG - WES DKC Fam3 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.*450_*455dup r.(?) p.(?) Maternal (confirmed) - VUS (!) g.673447_673452dup g.673447_673452dup - - TYMS_000012 - PubMed: Tummala 2022, Journal: Tummala 2022 - rs11280056 Germline yes - - - - DNA SEQ, SEQ-NG - WES DKC Fam4PatII1 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, affected brother/sister, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
?/. - c.*450_*455dup r.(?) p.(?) Maternal (confirmed) - VUS (!) g.673447_673452dup g.673447_673452dup - - TYMS_000012 - PubMed: Tummala 2022, Journal: Tummala 2022 - rs11280056 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam4PatII2 PubMed: Tummala 2022, Journal: Tummala 2022 sister F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.*450_*455dup r.(?) p.(?) Maternal (confirmed) - VUS (!) g.673447_673452dup g.673447_673452dup - - TYMS_000012 - PubMed: Tummala 2022, Journal: Tummala 2022 - rs11280056 Germline - - - - - DNA SEQ, SEQ-NG - WES DKC Fam5 PubMed: Tummala 2022, Journal: Tummala 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.*2347G>A r.(=) p.(=) Unknown - VUS g.675344G>A g.675344G>A ENOSF1(NM_017512.7):c.1207C>T (p.R403W) - ENOSF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4776A>G r.(=) p.(=) Unknown - VUS g.677773A>G g.677773A>G ENOSF1(NM_017512.7):c.1018T>C (p.S340P) - ENOSF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12936C>T r.(=) p.(=) Unknown - likely benign g.685933C>T - ENOSF1(NM_017512.7):c.729G>A (p.P243=) - ENOSF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18063C>A r.(=) p.(=) Unknown - likely benign g.691060C>A - ENOSF1(NM_017512.7):c.535+8G>T - ENOSF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*39521C>T r.(=) p.(=) Unknown - VUS g.712518C>T g.712518C>T ENOSF1(NM_017512.7):c.70G>A (p.G24S) - ENOSF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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