Full data view for gene SRD5A3

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
Information The variants shown are described using the NM_024592.4 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-6C>T r.(?) p.(=) Unknown - likely benign g.56212498C>T - SRD5A3(NM_024592.5):c.-6C>T - SRD5A3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.? Unknown - VUS g.56212504A>G - SRD5A3(NM_024592.5):c.1A>G (p.(Met1?)) - SRD5A3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.29C>A r.(?) p.(Ser10Ter) Unknown - pathogenic g.56212532C>A g.55346365C>A - - SRD5A3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.52G>A r.(?) p.(Val18Met) Unknown - likely benign g.56212555G>A g.55346388G>A SRD5A3(NM_024592.4):c.52G>A (p.V18M) - SRD5A3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.57G>A r.(?) p.(Trp19*) Both (homozygous) - pathogenic (recessive) g.56212560G>A g.55346393G>A - - SRD5A3_000005 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS ? 28771251-Pat10 PubMed: Lionel 2018 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.57G>A r.(?) p.(Trp19*) Parent #1 - pathogenic g.56212560G>A g.55346393G>A - - SRD5A3_000005 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398124401 Germline - 2/2783 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.57G>A r.(?) p.Trp19* Both (homozygous) - VUS g.56212560G>A g.55346393G>A - - SRD5A3_000005 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR115 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.57G>A r.(?) p.(Trp19*) Both (homozygous) - likely pathogenic g.56212560G>A g.55346393G>A c.57G-->A; p.Trp19* - SRD5A3_000005 no Sanger sequencing; homozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - CDG1Q 59 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.57G>A r.(?) p.(Trp19*) Both (homozygous) - likely pathogenic g.56212560G>A g.55346393G>A c.57G-->A; p.Trp19* - SRD5A3_000005 no Sanger sequencing; homozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - CDG1Q 60 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.57G>A r.(?) p.(Trp19*) Unknown - pathogenic g.56212560G>A - SRD5A3(NM_024592.5):c.57G>A (p.W19*) - SRD5A3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108G>T r.(?) p.(Pro36=) Unknown - likely benign g.56212611G>T g.55346444G>T SRD5A3(NM_024592.4):c.108G>T (p.P36=) - SRD5A3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123G>A r.(?) p.(Pro41=) Unknown - likely benign g.56212626G>A g.55346459G>A SRD5A3(NM_024592.4):c.123G>A (p.P41=) - SRD5A3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259A>G r.(?) p.(Asn87Asp) Unknown - VUS g.56225550A>G - SRD5A3(NM_024592.5):c.259A>G (p.(Asn87Asp)) - SRD5A3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.286_288delinsTGAGTAAGGC r.(?) p.(Gln96*) Both (homozygous) - likely pathogenic g.56225577_56225579delinsTGAGTAAGGC g.55359410_55359412delinsTGAGTAAGGC Allele 1 c.286_288delinsTGAGTAAGGC (p.Gln96*), Allele 2 c.286_288delinsTGAGTAAGGC - SRD5A3_000017 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
+/. - c.320G>A r.(?) p.(Trp107Ter) Both (homozygous) - pathogenic g.56225611G>A g.55359444G>A - - SRD5A3_000012 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - - - - - - - 1 IMGAG
+/. - c.320G>A r.(?) p.(Trp107Ter) Both (homozygous) - pathogenic (recessive) g.56225611G>A g.55359444G>A - - SRD5A3_000012 - PubMed: Froukh 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD TF105 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - 1 Johan den Dunnen
-?/. - c.364+19T>C r.(=) p.(=) Unknown - likely benign g.56225674T>C - SRD5A3(NM_024592.5):c.364+19T>C - SRD5A3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.435_436insA r.(?) p.(Glu146ArgfsTer74) Unknown - VUS g.56230311_56230312insA g.55364144_55364145insA SRD5A3(NM_024592.4):c.435_436insA (p.(Glu146ArgfsTer74)) - SRD5A3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.460T>C r.(?) p.(Ser154Pro) Unknown - VUS g.56230336T>C g.55364169T>C - - SRD5A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.538C>T r.(?) p.(Gln180*) Unknown - likely pathogenic g.56230414C>T - SRD5A3(NM_024592.5):c.538C>T (p.Q180*) - SRD5A3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566A>C r.(?) p.(Tyr189Ser) Unknown - likely benign g.56233758A>C - SRD5A3(NM_024592.4):c.566A>C (p.Y189S) - SRD5A3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.695C>A r.(?) p.(Ala232Glu) Unknown - likely benign g.56233887C>A g.55367720C>A SRD5A3(NM_024592.4):c.695C>A (p.A232E) - SRD5A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697+10C>A r.(=) p.(=) Unknown - likely benign g.56233899C>A - SRD5A3(NM_024592.5):c.697+10C>A - SRD5A3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.788A>G r.(?) p.(Tyr263Cys) Unknown - VUS g.56236089A>G - SRD5A3(NM_024592.4):c.788A>G (p.Y263C) - SRD5A3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829T>C r.(?) p.(Trp277Arg) Both (homozygous) - VUS g.56236130T>C g.55369963T>C - - SRD5A3_000013 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. - c.829T>C r.(?) p.(Trp277Arg) Both (homozygous) - likely pathogenic (recessive) g.56236130T>C g.55369963T>C - - SRD5A3_000013 - PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam11PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 1 affected M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.852dup r.(?) p.(Phe285Leufs*3) Unknown - likely pathogenic g.56236153dup - SRD5A3(NM_024592.4):c.852dupC (p.(Phe285fs)) - SRD5A3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.951_955del r.(?) p.(Phe318SerfsTer2) Unknown - VUS g.56236252_56236256del g.55370085_55370089del SRD5A3(NM_024592.4):c.951_955delGTTTT (p.F318Sfs*2), SRD5A3(NM_024592.5):c.951_955del (p.(Phe318Ser)), SRD5A3(NM_024592.5):c.951_955delGTTTT (p.F3...) - SRD5A3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.951_955del r.(?) p.(Phe318SerfsTer2) Unknown - VUS g.56236252_56236256del g.55370085_55370089del SRD5A3(NM_024592.4):c.951_955delGTTTT (p.F318Sfs*2), SRD5A3(NM_024592.5):c.951_955del (p.(Phe318Ser)), SRD5A3(NM_024592.5):c.951_955delGTTTT (p.F3...) - SRD5A3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.951_955del r.(?) p.(Phe318SerfsTer2) Unknown - VUS g.56236252_56236256del - SRD5A3(NM_024592.4):c.951_955delGTTTT (p.F318Sfs*2), SRD5A3(NM_024592.5):c.951_955del (p.(Phe318Ser)), SRD5A3(NM_024592.5):c.951_955delGTTTT (p.F3...) - SRD5A3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.951_955del r.(?) p.(Phe318SerfsTer2) Unknown - VUS g.56236252_56236256del - SRD5A3(NM_024592.4):c.951_955delGTTTT (p.F318Sfs*2), SRD5A3(NM_024592.5):c.951_955del (p.(Phe318Ser)), SRD5A3(NM_024592.5):c.951_955delGTTTT (p.F3...) - SRD5A3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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