Full data view for gene USP53

Information The variants shown are described using the NM_019050.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.-86A>G r.(?) p.(=) Unknown - benign g.120160829A>G g.119239674A>G - - USP53_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.169C>T r.(?) p.(Arg57*) Paternal (confirmed) - pathogenic (recessive) g.120166516C>T g.119245361C>T - - USP53_000024 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.297G>T r.(?) p.(Arg99Ser) Paternal (confirmed) - pathogenic (recessive) g.120169962G>T g.119248807G>T - - USP53_000025 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam7 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+?/. - c.331C>T r.(?) p.(Arg111Ter) Unknown - likely pathogenic g.120169996C>T - - - USP53_000032 - - - rs767460503 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.395A>G r.(?) p.(His132Arg) Maternal (confirmed) - pathogenic (recessive) g.120177423A>G g.119256268A>G - - USP53_000020 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam6 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.475_476del r.(?) p.(Leu159Valfs*2) Both (homozygous) - pathogenic (recessive) g.120177503_120177504del g.119256348_119256349del - - USP53_000015 - Alawbathani ESHG2020 C15.09 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam Alawbathani ESHG2020 C15.09 2-generation family, 1 affected - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.477_478del r.(?) p.(Tyr160*) Both (homozygous) ACMG likely pathogenic (recessive) g.120177505_120177506del g.119256350_119256351del - - USP53_000033 - - - - Germline yes - - - - DNA SEQ-NG-I Blood - PFIC - - - M yes Egypt - - - - - 1 Mohamed A. Elmonem
-/. - c.486+8G>T r.(=) p.(=) Unknown - benign g.120177522G>T g.119256367G>T - - USP53_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.569+2T>C r.spl p.? Parent #2 - pathogenic (recessive) g.120177680T>C g.119256525T>C - - USP53_000021 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam3 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.583del r.(?) p.(Arg195Glufs*38) Paternal (confirmed) - pathogenic (recessive) g.120180988del g.119259833del - - USP53_000026 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam4 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
-/. - c.738A>G r.(?) p.(Thr246=) Unknown - benign g.120181724A>G g.119260569A>G - - USP53_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.822+1del r.spl p.? Both (homozygous) - pathogenic (recessive) g.120181809del g.119260654del - - USP53_000016 - Alawbathani ESHG2020 C15.09 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam Alawbathani ESHG2020 C15.09 2-generation family, 1 affected - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.834_835dup r.(?) p.(Val279Glufs*17) Maternal (confirmed) - pathogenic (recessive) g.120182881_120182882dup g.119261726_119261727dup - - USP53_000027 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.878G>T r.(?) p.(Gly293Val) Parent #1 - pathogenic (recessive) g.120182925G>T g.119261770G>T - - USP53_000028 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam3 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.951del r.(?) p.(Phe317Leufs*6) Both (homozygous) - pathogenic (recessive) g.120182998del g.119261843del - - USP53_000017 - Alawbathani ESHG2020 C15.09 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam Alawbathani ESHG2020 C15.09 2-generation family, 1 affected - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.951del r.(?) p.(Phe317Leufs*6) Both (homozygous) - pathogenic (recessive) g.120182998del g.119261843del 951delT - USP53_000017 - PubMed: Maddirevula 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam5PatIII1 PubMed: Maddirevula 2019 5-generation family, 3 affected, unaffected heterozygous carrier parents/relatives F - Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.951del r.(?) p.(Phe317LeufsTer6) Both (homozygous) - pathogenic (recessive) g.120182998del g.119261843del 951delT - USP53_000017 - PubMed: Maddirevula 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam5PatV1 PubMed: Maddirevula 2019 relative F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.951del r.(?) p.(Phe317LeufsTer6) Both (homozygous) - pathogenic (recessive) g.120182998del g.119261843del 951delT - USP53_000017 - PubMed: Maddirevula 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS ? Fam5PatV4 PubMed: Maddirevula 2019 relative M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338*) Both (homozygous) - pathogenic (recessive) g.120188514C>T g.119267359C>T - - USP53_000022 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338*) Parent #1 - pathogenic (recessive) g.120188514C>T g.119267359C>T - - USP53_000022 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam5 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338*) Maternal (confirmed) - pathogenic (recessive) g.120188514C>T g.119267359C>T - - USP53_000022 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam4 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.1012C>T r.(?) p.(Arg338*) Maternal (confirmed) - pathogenic (recessive) g.120188514C>T g.119267359C>T - - USP53_000022 - Pagnamenta ESHG2020 C20.1 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam7 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.1214dup r.(?) p.(Asn405Lysfs*7) Both (homozygous) - pathogenic (recessive) g.120189501dup g.119268346dup - - USP53_000018 - Alawbathani ESHG2020 C15.09 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam Alawbathani ESHG2020 C15.09 2-generation family, 1 affected - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.1426C>T r.(?) p.(Arg476*) Parent #2 - pathogenic (recessive) g.120190983C>T g.119269828C>T - - USP53_000023 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam5 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.1524T>G r.(?) p.(Tyr508*) Both (homozygous) - pathogenic (recessive) g.120192539T>G g.119271384T>G - - USP53_000019 - Alawbathani ESHG2020 C15.09 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam Alawbathani ESHG2020 C15.09 2-generation family, 1 affected - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.1558C>T r.(?) p.(Arg520*) Paternal (confirmed) - pathogenic (recessive) g.120192573C>T g.119271418C>T - - USP53_000029 - PubMed: Zhang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam6 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
-/. - c.1617T>C r.(?) p.(Ile539=) Unknown - benign g.120192632T>C g.119271477T>C - - USP53_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1661A>G r.(?) p.(Asn554Ser) Unknown - benign g.120192676A>G g.119271521A>G - - USP53_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1738C>T r.(?) p.(Arg580Trp) Unknown - VUS g.120192753C>T g.119271598C>T USP53(NM_019050.2):c.1738C>T (p.R580W) - USP53_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1849C>T r.(?) p.(Pro617Ser) Parent #1 - VUS g.120192864C>T - - - USP53_000030 - PubMed: Pannone 2020, Journal: Pannone 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Motta 2020, Journal: Motta 2020 - M no Spain white - - - - 1 Johan den Dunnen
?/. - c.2072G>A r.(?) p.(Ser691Asn) Unknown - VUS g.120193087G>A g.119271932G>A USP53(NM_019050.2):c.2072G>A (p.(Ser691Asn)) - USP53_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2187G>A r.(?) p.(Thr729=) Unknown - benign g.120194799G>A g.119273644G>A - - USP53_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2297A>C r.(?) p.(His766Pro) Unknown - VUS g.120212365A>C g.119291210A>C USP53(NM_019050.2):c.2297A>C (p.H766P) - USP53_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2388A>G r.(?) p.(Ser796=) Unknown - likely benign g.120213532A>G g.119292377A>G USP53(NM_019050.2):c.2388A>G (p.S796=) - C4orf3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2611G>C r.(?) p.(Gly871Arg) Parent #2 - VUS g.120213755G>C - - - USP53_000031 - PubMed: Pannone 2020, Journal: Pannone 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Motta 2020, Journal: Motta 2020 - M no Spain white - - - - 1 Johan den Dunnen
?/. - c.2666G>A r.(?) p.(Cys889Tyr) Unknown - VUS g.120213810G>A - USP53(NM_019050.2):c.2666G>A (p.C889Y) - C4orf3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2886T>G r.(?) p.(Ser962Arg) Unknown - benign g.120214030T>G g.119292875T>G - - USP53_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3015C>T r.(?) p.(Asn1005=) Unknown - benign g.120214159C>T g.119293004C>T - - USP53_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3147T>C r.(?) p.(Tyr1049=) Unknown - benign g.120214291T>C g.119293136T>C - - USP53_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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