Full data view for gene SRD5A2

Information The variants shown are described using the NM_000348.3 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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     

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Population     

Age at death     

VIP     

Data_av     

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Panel size     

Owner     
?/. - c.-30275212_*4150858dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-62G>C r.(?) p.(=) Unknown - benign g.31806031C>G g.31580962C>G - - SRD5A2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.16C>T r.(?) p.(Gln6Ter) Unknown - pathogenic g.31805954G>A g.31580885G>A SRD5A2(NM_000348.3):c.16C>T (p.Q6*) - SRD5A2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.80T>C r.spl? p.(Val27fs) Both (homozygous) - pathogenic g.31805890A>G g.31580821A>G - 46,XY SRD5A2_000099 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat68 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.80_88del r.(?) p.(Val27_Pro30delinsAla) Unknown - pathogenic g.31805884_31805891del - SRD5A2(NM_000348.3):c.80_87delTCGCGAAG (p.V27Afs*106) - SRD5A2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.86_90= r.(=) p.(Lys29=) Unknown - benign g.31805882dup - SRD5A2(NM_000348.4):c.90dupC (p.S31Lfs*105) - SRD5A2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.102del r.(?) p.(Lys35Serfs*6) Both (homozygous) - pathogenic g.31805871del g.31580801del - 46,XY SRD5A2_000098 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat41 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.102del r.(?) p.(Lys35Serfs*6) Paternal (confirmed) - pathogenic g.31805871del g.31580801del - 46,XY SRD5A2_000098 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat57 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
-/. - c.145G>A r.(?) p.(Ala49Thr) Unknown - benign g.31805826C>T - SRD5A2(NM_000348.3):c.145G>A (p.A49T) - SRD5A2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.164T>A r.(?) p.(Leu55Gln) Both (homozygous) - pathogenic g.31805807A>T g.31580737A>T - 46,XY SRD5A2_000097 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat40 PubMed: Eggers 2016 - rF - - - - - - - 1 Johan den Dunnen
?/. - c.170A>G r.(?) p.(Glu57Gly) Unknown - VUS g.31805801T>C - - - SRD5A2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.210G>A r.(?) p.(Arg70=) Unknown - likely benign g.31805761C>T - SRD5A2(NM_000348.3):c.210G>A (p.R70=) - SRD5A2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.265C>G r.(?) p.(Leu89Val) Unknown - benign g.31805706G>C - - - SRD5A2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.271T>C r.(?) p.(Tyr91His) Unknown - likely pathogenic g.31805700A>G - - - SRD5A2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.281-2A>G r.spl? p.? Unknown - pathogenic g.31758838T>C - SRD5A2(NM_000348.3):c.282-2A>G - SRD5A2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281G>A r.(?) p.(Arg94Lys) Parent #1 - VUS g.31758836C>T - NM_000348c.G281A (R94Q) 46,XY SRD5A2_000096 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat232 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
-/. - c.281+15T>C r.(=) p.(=) Unknown - benign g.31805675A>G - - - SRD5A2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.281+16T>C r.(=) p.(=) Unknown - benign g.31805674A>G - SRD5A2(NM_000348.3):c.281+16T>C - SRD5A2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.307C>T r.(?) p.(Arg103Ter) Unknown - pathogenic g.31758811G>A - - - SRD5A2_000121 - - - rs267599353 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.354C>A r.(?) p.(Phe118Leu) Both (homozygous) - likely pathogenic g.31758764G>T g.31533694G>T SRD5A2 c.354C>A, (p.Phe118Leu) - SRD5A2_000116 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease 90 PubMed: Alabdullatif 2017 - M yes United Arab Emirates - - - - - 1 LOVD
+/. - c.377A>G r.(?) p.(Gln126Arg) Unknown - pathogenic g.31758740T>C - - 46,XY SRD5A2_000083 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat75 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.377A>G r.(?) p.(Gln126Arg) Unknown - pathogenic g.31758741T>C - - - SRD5A2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.378A>G r.(?) p.(Gln126=) Unknown - pathogenic g.31758740T>C - SRD5A2(NM_000348.3):c.378A>G (p.Q126=) - SRD5A2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.418T>G r.(?) p.(Trp140Gly) Unknown - likely pathogenic g.31758700A>C - - - SRD5A2_000119 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.446-90_446-89insTTCCCTTCATTTTTTGGAATTAAATGCCC r.(=) p.(=) Unknown - benign g.31756643_31756644insCCAAAAAATGAAGGGAAGGGCATTTAATT - SRD5A2(NM_000348.3):c.446-89_446-88insTCCCTTCATTTTTTGGAATTAAATGCCCT - SRD5A2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.464del r.(?) p.(Leu155Trpfs*5) Both (homozygous) - pathogenic g.31756523del - NM_000348:c.CA464C:p.L155fs 46,XY SRD5A2_000093 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat26 PubMed: Eggers 2016 - rF - - - - - - - 1 Johan den Dunnen
?/. - c.513G>C r.(?) p.(Arg171Ser) Unknown - VUS g.31756475C>G - SRD5A2(NM_000348.3):c.513G>C (p.R171S) - SRD5A2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.542C>T r.(?) p.(Pro181Leu) Parent #1 - pathogenic g.31756446G>A g.31531376G>A NM_000348:c.G541A (P181L) 46,XY SRD5A2_000094 variant description correct? PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat18 PubMed: Eggers 2016 - rF - - - - - - - 1 Johan den Dunnen
+/. - c.547+1G>A r.spl? p.? Unknown - pathogenic g.31756440C>T - SRD5A2(NM_000348.3):c.547+1G>A - SRD5A2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.578A>G r.(?) p.(Asn193Ser) Both (homozygous) - pathogenic g.31754497T>C g.31529427T>C - 46,XY SRD5A2_000080 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat208 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.578A>G r.(?) p.(Asn193Ser) Unknown - pathogenic g.31754497T>C - SRD5A2(NM_000348.3):c.578A>G (p.N193S) - SRD5A2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.586G>A r.(?) p.(Gly196Ser) Unknown - likely pathogenic g.31754489C>T - SRD5A2(NM_000348.3):c.586G>A (p.G196S) - SRD5A2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.587G>A r.(?) p.(Gly196Asp) Unknown - pathogenic g.31754488C>T - SRD5A2(NM_000348.3):c.587G>A (p.G196D) - SRD5A2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.593C>T - p.? Parent #1 - benign g.31754481G>A g.31529411G>A - - SRD5A2_000113 2 heterozygous, no homozygous; Clinindb (India) Variant Error EMISMATCH/EREF: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs28383064 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.597T>A r.(?) p.(Ile199=) Unknown - VUS g.31754478A>T - SRD5A2(NM_000348.3):c.597T>A (p.I199=) - SRD5A2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.607G>A r.(?) p.(Gly203Ser) Unknown - pathogenic g.31754468C>T - SRD5A2(NM_000348.3):c.607G>A (p.G203S) - SRD5A2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.608G>A r.(?) p.(Gly203Asp) Unknown - pathogenic g.31754467C>T - SRD5A2(NM_000348.3):c.608G>A (p.G203D) - SRD5A2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.620C>A r.? p.(Ala207Asp) Parent #1 - pathogenic g.31754454G>T - - 46,XY SRD5A2_000095 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat75 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.623C>T r.(?) p.(Thr208Ile) Both (homozygous) ACMG likely pathogenic (recessive) g.31754452G>A g.31529382G>A - - SRD5A2_000115 ACMG: PM1, PM3, PS4_SUP, PM2_SUP, PP4 - RCV000548299 - Germline yes - - - - DNA SEQ-NG-I - - PPSH 183442 - - M likely India - - - - - 1 Andreas Laner
+/. - c.680G>A r.(?) p.(Arg227Gln) Unknown - pathogenic g.31754395C>T - - - SRD5A2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.680G>A r.(?) p.(Arg227Gln) Both (homozygous) - pathogenic g.31754395C>T g.31529325C>T - 46,XY SRD5A2_000076 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat30 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.680G>A r.(?) p.(Arg227Gln) Both (homozygous) - pathogenic g.31754395C>T g.31529325C>T - 46,XY SRD5A2_000076 mother not analysed PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat116 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.680G>A r.(?) p.(Arg227Gln) Both (homozygous) - pathogenic g.31754395C>T g.31529325C>T - 46,XY SRD5A2_000076 mother not analysed PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat117 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.680G>A - - Unknown - likely benign g.31754394C>T g.31529325C>T - - SRD5A2_000076 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.014 - - - 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.692A>G r.(?) p.(His231Arg) Unknown - pathogenic g.31754383T>C - SRD5A2(NM_000348.3):c.692A>G (p.H231R) - SRD5A2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.692A>G r.(?) p.(His231Arg) Both (homozygous) - pathogenic g.31754383T>C g.31529313T>C - 46,XY SRD5A2_000074 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat33 PubMed: Eggers 2016 family, 2 sibs M - - - - - - - 2 Johan den Dunnen
+/. - c.692A>G r.(?) p.(His231Arg) Both (homozygous) - pathogenic g.31754383T>C g.31529313T>C - 46,XY SRD5A2_000074 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat34 PubMed: Eggers 2016 sib34 M - - - - - - - 1 Johan den Dunnen
+/. - c.692A>G r.(?) p.(His231Arg) Unknown - pathogenic g.31754383T>C - SRD5A2(NM_000348.3):c.692A>G (p.H231R) - SRD5A2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.698+7T>G r.(=) p.(=) Unknown - likely benign g.31754370A>C - SRD5A2(NM_000348.3):c.698+7T>G - SRD5A2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.698+32C>T r.(=) p.(=) Unknown - benign g.31754345G>A - SRD5A2(NM_000348.3):c.698+32C>T - SRD5A2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.702C>G r.(?) p.(Phe234Leu) Unknown - VUS g.31751329G>C - - - SRD5A2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.704A>T r.(?) p.(Tyr235Phe) Unknown - pathogenic g.31751327T>A - SRD5A2(NM_000348.3):c.704A>T (p.Y235F) - SRD5A2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.724T>A r.(?) p.(Tyr242Asn) Both (homozygous) - VUS g.31751307A>T g.31526237A>T - - SRD5A2_000092 - - - - Germline - - - - - DNA SEQ blood - PPSH - - - - - - - - - - - 1 Mahboubeh Rafigh
?/. - c.733C>A - p.? Parent #1 - VUS g.31751297G>T g.31526227G>T - - SRD5A2_000112 2 heterozygous, no homozygous; Clinindb (India) Variant Error EMISMATCH/EREF: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs145712014 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.737G>A r.(?) p.(Arg246Gln) Both (homozygous) - pathogenic g.31751293C>T - - 46,XY SRD5A2_000072 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat64 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.737G>A r.(?) p.(Arg246Gln) Both (homozygous) - pathogenic g.31751293C>T - - 46,XY SRD5A2_000072 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat257 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.737G>A r.(?) p.(Arg246Gln) Maternal (confirmed) - pathogenic g.31751293C>T - - 46,XY SRD5A2_000072 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat57 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+/. - c.737G>A r.(?) p.(Arg246Gln) Both (homozygous) - pathogenic g.31751293C>T - - 46,XY SRD5A2_000072 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat154 PubMed: Eggers 2016 - rF - - - - - - - 1 Johan den Dunnen
+/. - c.737G>A r.(?) p.(Arg246Gln) Unknown - pathogenic g.31751294C>T - SRD5A2(NM_000348.3):c.737G>A (p.R246Q) - SRD5A2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.738G>A r.(?) p.(Arg246=) Unknown - pathogenic g.31751293C>T - SRD5A2(NM_000348.3):c.738G>A (p.R246=) - SRD5A2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*91_*92insATATATATATATATATAT r.(=) p.(=) Unknown - benign g.31751174_31751175insATATATATATATATATAT g.31526104_31526105insATATATATATATATATAT SRD5A2(NM_000348.3):c.*91_*92insATATATATATATATATAT - SRD5A2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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