Full data view for gene UROS

Information The variants shown are described using the NM_000375.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.-7869364_*4326626dup - - Unknown - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-?/. - c.-712T>C r.(?) p.(=) Unknown - likely benign g.127512283A>G - BCCIP(NM_078469.2):c.157A>G (p.I53V) - BCCIP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-648T>A r.(?) p.(=) Unknown - likely benign g.127512219A>T - BCCIP(NM_078469.2):c.93A>T (p.E31D) - BCCIP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.26C>A r.(?) p.(Ala9Glu) Unknown - VUS g.127505043G>T - UROS(NM_000375.3):c.26C>A (p.(Ala9Glu)) - UROS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148-4G>T r.spl? p.? Unknown - likely benign g.127503703C>A - UROS(NM_001324039.1):c.148-4G>T - UROS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.296T>C r.(?) p.(Val99Ala) Unknown - pathogenic g.127500806A>G - UROS(NM_000375.3):c.296T>C (p.(Val99Ala)) - UROS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.338A>T r.(?) p.(Asp113Val) Unknown - likely benign g.127496038T>A - UROS(NM_000375.2):c.338A>T (p.(Asp113Val)) - UROS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559C>G r.(?) p.(Gln187Glu) Unknown - VUS g.127484674G>C - UROS(NM_000375.3):c.559C>G (p.(Gln187Glu)) - UROS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.660+4del r.spl? p.? Unknown - VUS g.127483446del - UROS(NM_000375.3):c.660+4del - UROS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9i c.661-31T>G r.[660_661ins661-358_661-278, 660_661ins[661-358_661-32;g;661-30_661-1], 660_661ins661-523_661-278] p.Phe221fs Both (homozygous) - pathogenic g.127477605A>C g.125789036A>C - - UROS_000001 normal mRNA transcript 0.10; branchpoint variant PubMed: Bishop 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CEP 19965637-Pat3 PubMed: Bishop 2010 - M - United States white; Jewish-Ashkenazi >15y - - - 1 Johan den Dunnen
+/. 9i c.661-31T>G r.[660_661ins661-358_661-278, 660_661ins[661-358_661-32;g;661-30_661-1], 660_661ins661-523_661-278] p.Phe221fs Both (homozygous) - pathogenic g.127477605A>C g.125789036A>C - - UROS_000001 normal mRNA transcript 0.10; branchpoint variant PubMed: Bishop 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CEP 19965637-Pat6 PubMed: Bishop 2010 - M no United States white; Jewish-Ashkenazi >20y - - - 1 Johan den Dunnen
+/. 9i c.661-31T>G r.[660_661ins661-358_661-278, 660_661ins[661-358_661-32;g;661-30_661-1], 660_661ins661-523_661-278] p.Phe221fs Both (homozygous) - pathogenic g.127477605A>C g.125789036A>C - - UROS_000001 normal mRNA transcript 0.10; branchpoint variant PubMed: Bishop 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CEP 19965637-Pat10 PubMed: Bishop 2010 - M yes Switzerland Lebanon >20y - - - 1 Johan den Dunnen
+/. - c.673G>A r.(?) p.(Gly225Ser) Parent #1 - pathogenic g.127477562C>T g.125788993C>T - - UROS_000002 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908020 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.693_694del r.(?) p.(Leu232Glyfs*74) Unknown - VUS g.127477546_127477547del - UROS(NM_000375.3):c.693_694del (p.(Leu232Glyfs*74)) - UROS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.704A>G r.(?) p.(Gln235Arg) Unknown - likely benign g.127477531T>C - UROS(NM_000375.2):c.704A>G (p.(Gln235Arg)) - UROS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.785A>G r.(?) p.(His262Arg) Unknown - VUS g.127477450T>C - UROS(NM_000375.3):c.785A>G (p.(His262Arg)) - UROS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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