Full data view for gene UPB1

Information The variants shown are described using the NM_016327.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.81C>T r.(?) p.(Arg27=) Unknown - likely benign g.24891452C>T g.24495484C>T UPB1(NM_016327.3):c.81C>T (p.R27=) - UPB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82G>A r.(?) p.(Val28Ile) Unknown - likely benign g.24891453G>A - UPB1(NM_016327.2):c.82G>A (p.V28I) - UPB1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91G>A r.(?) p.(Gly31Ser) Parent #1 - VUS g.24891462G>A g.24495494G>A - - UPB1_000010 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200145797 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.91G>A r.(?) p.(Gly31Ser) Unknown - VUS g.24891462G>A - UPB1(NM_016327.2):c.91G>A (p.(Gly31Ser)) - UPB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.105-2A>G r.spl? p.? Unknown - VUS g.24896073A>G g.24500105A>G UPB1(NM_016327.2):c.105-2A>G (p.?), UPB1(NM_016327.3):c.105-2A>G - UPB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.105-2A>G r.spl? p.? Unknown - likely pathogenic g.24896073A>G g.24500105A>G UPB1(NM_016327.2):c.105-2A>G (p.?), UPB1(NM_016327.3):c.105-2A>G - UPB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.105-2A>G r.spl? p.? Unknown - likely pathogenic g.24896073A>G - UPB1(NM_016327.2):c.105-2A>G (p.?), UPB1(NM_016327.3):c.105-2A>G - UPB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.105-2A>G r.spl? p.? Unknown - likely pathogenic g.24896073A>G - UPB1(NM_016327.2):c.105-2A>G (p.?), UPB1(NM_016327.3):c.105-2A>G - UPB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.105-2A>G r.spl? p.? Unknown - pathogenic g.24896073A>G - UPB1(NM_016327.2):c.105-2A>G (p.?), UPB1(NM_016327.3):c.105-2A>G - UPB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358G>T r.(?) p.(Ala120Ser) Unknown - VUS g.24898175G>T - UPB1(NM_016327.2):c.358G>T (p.A120S) - UPB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.364+129C>T r.(=) p.(=) Unknown - benign g.24898310C>T g.24502342C>T UPB1(NM_016327.3):c.364+129C>T - UPB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.365-13_375del r.spl? p.? Unknown - VUS g.24906704_24906727del - UPB1(NM_016327.3):c.365-13_375del - UPB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.386C>T r.(?) p.(Thr129Met) Unknown - likely pathogenic g.24906738C>T - UPB1(NM_016327.3):c.386C>T (p.T129M) - UPB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.459+2T>C r.spl? p.? Unknown - VUS g.24906813T>C - UPB1(NM_016327.3):c.459+2T>C - UPB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.464C>T r.(?) p.(Ala155Val) Unknown - VUS g.24909296C>T - - - UPB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522G>T r.(?) p.(Gly174=) Unknown - likely benign g.24909354G>T - UPB1(NM_016327.2):c.522G>T (p.G174=) - UPB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598C>G r.(?) p.(Pro200Ala) Unknown - VUS g.24909430C>G g.24513462C>G UPB1(NM_016327.2):c.598C>G (p.(Pro200Ala)) - UPB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734A>G r.(?) p.(Tyr245Cys) Unknown - VUS g.24911281A>G - UPB1(NM_016327.2):c.734A>G (p.(Tyr245Cys)) - UPB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.792C>A r.(?) p.(Ser264Arg) Unknown - VUS g.24916355C>A - UPB1(NM_016327.2):c.792C>A (p.S264R) - UPB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900G>A r.(?) p.(Ser300=) Unknown - likely benign g.24917980G>A g.24522012G>A UPB1(NM_016327.2):c.900G>A (p.S300=) - UPB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.917-1G>A r.spl p.? Both (homozygous) - pathogenic g.24919586G>A g.24523618G>A - - UPB1_000004 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+?/. - c.917-1G>A r.spl? p.? Unknown - likely pathogenic g.24919586G>A g.24523618G>A UPB1(NM_016327.2):c.917-1G>A, UPB1(NM_016327.3):c.917-1G>A - UPB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.917-1G>A r.spl? p.? Parent #1 - pathogenic g.24919586G>A g.24523618G>A - - UPB1_000004 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143493067 Germline - 12/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
+?/. - c.917-1G>A r.spl? p.? Unknown - likely pathogenic g.24919586G>A g.24523618G>A UPB1(NM_016327.2):c.917-1G>A, UPB1(NM_016327.3):c.917-1G>A - UPB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.917-1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.24919586G>A g.24523618G>A - - UPB1_000004 - - - - Germline ? - - - - DNA SEQ-NG-I - - cardiomyopathy, hypertrophic, early-onset fatal 155458 - patient deceased sudden death, post-mortem analysis ? ? Germany - - - - - 1 Andreas Laner
+?/. - c.917-1G>A r.spl? p.? Unknown ACMG likely pathogenic (dominant) g.24919586G>A - - - UPB1_000004 ACMG: PVS1, PM2: class 4 - - - Germline ? - - - - DNA SEQ-NG-I - - SIDS 155457 - submission for publication Schoen et al.; 2021: sudden unexplained death ? ? Germany - - - - - 1 Andreas Laner
+?/. - c.917-1G>A r.spl? p.? Unknown - likely pathogenic g.24919586G>A - UPB1(NM_016327.2):c.917-1G>A, UPB1(NM_016327.3):c.917-1G>A - UPB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.917-1G>A r.spl? p.? Unknown - pathogenic g.24919586G>A - UPB1(NM_016327.2):c.917-1G>A, UPB1(NM_016327.3):c.917-1G>A - UPB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.977G>A r.(?) p.(Arg326Gln) Parent #1 - VUS g.24919647G>A g.24523679G>A - - UPB1_000011 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118163237 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
-?/. - c.977G>A r.(?) p.(Arg326Gln) Unknown - likely benign g.24919647G>A g.24523679G>A - - UPB1_000011 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.021 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+/. - c.977G>A r.(?) p.(Arg326Gln) Unknown - pathogenic g.24919647G>A - UPB1(NM_016327.2):c.977G>A (p.(Arg326Gln)) - UPB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.995G>A r.(?) p.(Arg332His) Unknown - VUS g.24919665G>A - - - UPB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1108G>A r.(?) p.(Ala370Thr) Unknown - likely benign g.24921715G>A - UPB1(NM_016327.2):c.1108G>A (p.A370T) - UPB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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