Full data view for gene ST3GAL5

Information The variants shown are described using the NM_003896.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.37C>T r.(?) p.(Pro13Ser) Unknown - benign g.86115992G>A g.85888869G>A ST3GAL5(NM_003896.4):c.37C>T (p.(Pro13Ser)) - ST3GAL5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70C>T r.(?) p.(Pro24Ser) Unknown - likely benign g.86115959G>A g.85888836G>A ST3GAL5(NM_003896.3):c.70C>T (p.(Pro24Ser)) - ST3GAL5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.207-1G>T r.(207_318del) p.(Cys70Glufs*81) Paternal (confirmed) ACMG likely pathogenic (recessive) g.86088416C>A g.85861293C>A - - ST3GAL5_000019 effect on splicing predicted from mini-gene splicing assay PubMed: Mu 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD patient PubMed: Mu 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.221T>A r.(?) p.(Val74Glu) Both (homozygous) - pathogenic (recessive) g.86088401A>T g.85861278A>T - - ST3GAL5_000025 - PubMed: Abdulkareem 2023 - - Germline yes - - - - DNA SEQ-NG - WES NDD FamPatIV1 PubMed: Abdulkareem 2023 4-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier first-degree cousin parents/relatives F yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.221T>A r.(?) p.(Val74Glu) Both (homozygous) - pathogenic (recessive) g.86088401A>T g.85861278A>T - - ST3GAL5_000025 - PubMed: Abdulkareem 2023 - - Germline yes - - - - DNA SEQ-NG - WES NDD FamPatIV2 PubMed: Abdulkareem 2023 sister F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.221T>A r.(?) p.(Val74Glu) Both (homozygous) - pathogenic (recessive) g.86088401A>T g.85861278A>T - - ST3GAL5_000025 - PubMed: Abdulkareem 2023 - - Germline yes - - - - DNA SEQ-NG - WES NDD FamPatIV3 PubMed: Abdulkareem 2023 brother M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.282del r.(?) p.(Met94IlefsTer12) Unknown - likely pathogenic g.86088340del - ST3GAL5(NM_001354227.1):c.198delG (p.M66Ifs*12) - ST3GAL5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.318+1dup r.spl? p.? Unknown - VUS g.86088304dup - ST3GAL5(NM_001354233.1):c.-684+1dupG - ST3GAL5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.336dup r.(?) p.(Gln113SerfsTer22) Unknown - VUS g.86075310dup g.85848187dup ST3GAL5(NM_001042437.1):c.267_268insT (p.(Gln90SerfsTer22)) - ST3GAL5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.390G>A r.(?) p.(Ala130=) Unknown - likely benign g.86075256C>T - ST3GAL5(NM_001354248.1):c.6G>A (p.A2=) - ST3GAL5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.415G>A r.(?) p.(Val139Met) Unknown - likely benign g.86075231C>T - ST3GAL5(NM_001354248.1):c.31G>A (p.V11M) - ST3GAL5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479C>A r.(?) p.(Pro160His) Unknown - VUS g.86075167G>T g.85848044G>T - - ST3GAL5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.584G>C r.(?) p.(Cys195Ser) Paternal (confirmed) - pathogenic (recessive) g.86075062C>G g.85847939C>G - - ST3GAL5_000006 - PubMed: Lee 2016, OMIM:var0003 - rs886037930 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 27232954-FamPat PubMed: Lee 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Korea - - - - - 2 Johan den Dunnen
+/. 4 c.601G>A r.(?) p.(Gly201Arg) Maternal (confirmed) - pathogenic (recessive) g.86075045C>T g.85847922C>T - - ST3GAL5_000007 - PubMed: Lee 2016, OMIM:var0004 - rs771732955 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 27232954-FamPat PubMed: Lee 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Korea - - - - - 2 Johan den Dunnen
-?/. - c.648C>T r.(?) p.(Phe216=) Unknown - likely benign g.86074998G>A - ST3GAL5(NM_001354248.1):c.264C>T (p.F88=) - ST3GAL5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.662+18_662+19del r.(=) p.(=) Unknown - likely benign g.86074966_86074967del - ST3GAL5(NM_003896.3):c.662+18_662+19delGT - ST3GAL5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.737A>G r.(?) p.(Glu246Gly) Parent #2 - likely pathogenic (recessive) g.86073612T>C g.85846489T>C E223G - ST3GAL5_000021 - PubMed: Liang 2020 - - Germline - - - - - DNA SEQ-NG - - ? patient PubMed: Liang 2020 - - - China - - - - - 1 Johan den Dunnen
+?/. 5 c.740G>A r.(?) p.(Gly247Asp) Both (homozygous) - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED2599.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Asp) Both (homozygous) - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam1Pat1 PubMed: Heide 2022 family, 2 affected F - Reunion - - - - - 2 Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Asp) Both (homozygous) - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam1Pat2 PubMed: Heide 2022 relative M - Reunion - - - - - 1 Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Asp) Both (homozygous) - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam2Pat3 PubMed: Heide 2022 - M - Reunion - - - - - 1 Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Asp) Both (homozygous) - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam3Pat4 PubMed: Heide 2022 family, 2 affected F - Reunion - - - - - 2 Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Asp) Both (homozygous) - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam3Pat5 PubMed: Heide 2022 relative M - Reunion - - - - - 1 Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Asp) Both (homozygous) - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam4Pat6 PubMed: Heide 2022 - F - Reunion - - - - - 1 Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Asp) Both (homozygous) - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam5Pat7 PubMed: Heide 2022 - M - Reunion - - - - - 1 Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Asp) Both (homozygous) - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam6Pat8 PubMed: Heide 2022 - M - Reunion - - - - - 1 Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Asp) Both (homozygous) - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam7Pat9 PubMed: Heide 2022 - M - Reunion - - - - - 1 Johan den Dunnen
+?/. - c.740G>A r.(?) p.(Gly247Asp) Parent #1 - likely pathogenic (recessive) g.86073609C>T g.85846486C>T - - ST3GAL5_000018 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam8Pat10 PubMed: Heide 2022 - M - Reunion;Cote D'Ivoire (Ivory Coast) - - - - - 1 Johan den Dunnen
-?/. - c.850-5C>T r.spl? p.? Unknown - likely benign g.86071682G>A - ST3GAL5(NM_003896.3):c.850-5C>T - ST3GAL5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.862C>T r.(?) p.(Arg288Ter) Unknown - pathogenic g.86071665G>A g.85844542G>A ST3GAL5(NM_003896.3):c.862C>T (p.R288*) - ST3GAL5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.862C>T r.(?) p.(Arg288*) Both (homozygous) - pathogenic (recessive) g.86071665G>A g.85844542G>A 694C>T (R232X) - ST3GAL5_000001 linkage LOD 6.84 around marker D2S2162 PubMed: Simpson 2004, OMIM:var0001 - rs104893668 Germline yes - - - - DNA SEQ - - epilepsy 15502825-Fam PubMed: Simpson 2004 8-generation family, 9 affected (2F, 7M), unaffected carrier parents/relatives F;M yes United States Amish - - - - 9 Johan den Dunnen
+/. 6 c.862C>T r.(?) p.(Arg288*) Both (homozygous) - pathogenic (recessive) g.86071665G>A g.85844542G>A - - ST3GAL5_000001 - PubMed: Fragaki 2013, OMIM:var0001 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES epilepsy 22990144-FamPatV5/6 PubMed: Fragaki 2013 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes France - - - - - 2 Johan den Dunnen
+/. 6 c.862C>T r.(?) p.(Arg288*) Both (homozygous) - pathogenic (recessive) g.86071665G>A g.85844542G>A - - ST3GAL5_000001 - PubMed: Wang 2016, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - SPDRS Pats PubMed: Wang 2013, PubMed: Wang 2016 38 individuals (19F, 19M), unaffected heterozygous carrier parents/relatives (8 reported before) F;M yes United States - - - - - 26 Johan den Dunnen
+?/. - c.862C>T r.(?) p.(Arg288Ter) Both (homozygous) - likely pathogenic g.86071665G>A g.85844542G>A - - ST3GAL5_000001 - PubMed: Srivastava 2014 - - Germline - - - - - DNA SEQ-NG - WES ? Pat54 PubMed: Srivastava 2014 family, several affected - yes United States - - - - - 2 Johan den Dunnen
+/. - c.862C>T r.(?) p.(Arg288*) Both (homozygous) - pathogenic (recessive) g.86071665G>A g.85844542G>A - - ST3GAL5_000001 - PubMed: Gordon-Lipkin 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID family PubMed: Gordon-Lipkin 2018 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M - United States - - - - - 3 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Arg334Ter) Parent #1 - pathogenic (recessive) g.86071527G>A g.85844404G>A - - ST3GAL5_000028 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam10Pat13 PubMed: Heide 2022 family, 2 affected F - Italy Europe - - - - 2 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Arg334Ter) Parent #1 - pathogenic (recessive) g.86071527G>A g.85844404G>A - - ST3GAL5_000028 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam10Pat14 PubMed: Heide 2022 relative F - Italy Europe - - - - 1 Johan den Dunnen
+/. - c.1000del r.(?) p.(Arg334Glufs*15) Maternal (confirmed) - pathogenic (recessive) g.86071528del g.85844405del NM_003896.4:1000delC - ST3GAL5_000017 - PubMed: Watanabe 2023 - - Germline - - - - - DNA SEQ-NG-I - - SPDRS FamPat1 PubMed: Watanabe 2023 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Japan China - - - - 2 Shiena Watanabe
+/. - c.1000del r.(?) p.(Arg334Glufs*15) Maternal (confirmed) ACMG likely pathogenic (recessive) g.86071528del g.85844405del 1000delC - ST3GAL5_000017 - PubMed: Mu 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD patient PubMed: Mu 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.1000del r.(?) p.(Arg334Glufs*15) Maternal (confirmed) - pathogenic (recessive) g.86071528del g.85844405del 1000delC - ST3GAL5_000017 - PubMed: Watanabe 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SPDRS FamPat2 PubMed: Watanabe 2023 sister F no Japan China - - - - 1 Johan den Dunnen
+/. 7 c.1024G>A r.(?) p.(Gly342Ser) Both (homozygous) - pathogenic (recessive) g.86067500C>T g.85840377C>T - - ST3GAL5_000004 - PubMed: Indellicato 2019 - - Germline - - - - - DNA, RNA, protein expr, SEQ, SEQ-NG-I - TruSightONE Clinical Exome CDG patient PubMed: Indellicato 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy white 13y - - - 1 Marco Trinchera
+/. - c.1024G>A r.(?) p.(Gly342Ser) Unknown - pathogenic (recessive) g.86067500C>T g.85840377C>T - - ST3GAL5_000004 - PubMed: Heide 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Fam12Pat16 PubMed: Heide 2022 - F - Italy Europe - - - - 1 Johan den Dunnen
+/. - c.1030_1031del r.(?) p.(Ile344Cysfs*11) Both (homozygous) ACMG pathogenic (recessive) g.86067493_86067494del g.85840370_85840371del - - ST3GAL5_000022 ACMG PVS1, PM2, PM3, PP3 PubMed: Manoochehri 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatIV2 PubMed: Manoochehri 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents F - Iran - - - - - 1 Johan den Dunnen
+/. - c.1060G>A r.(?) p.(Asp354Asn) Parent #1 - likely pathogenic (recessive) g.86067464C>T g.85840341C>T D331N - ST3GAL5_000020 - PubMed: Liang 2020 - - Germline - - - - - DNA SEQ-NG - - ? patient PubMed: Liang 2020 - - - China - - - - - 1 Johan den Dunnen
+/. 7 c.1063G>A r.(?) p.(Glu355Lys) Both (homozygous) - pathogenic (recessive) g.86067461C>T g.85840338C>T 994G>A (E332K) - ST3GAL5_000005 tested in vitro PubMed: Boccuto 2014, OMIM:var0002 - rs534438354 Germline yes - - - - DNA SEQ, SEQ-NG - WES SPDRS FamK6848 PubMed: Boccuto 2014 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes United States African-American - - - - 3 Johan den Dunnen
+/. - c.1063G>A r.(?) p.(Glu355Lys) Parent #2 - pathogenic (recessive) g.86067461C>T g.85840338C>T - - ST3GAL5_000005 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam8Pat10 PubMed: Heide 2022 - M - Reunion;Cote D'Ivoire (Ivory Coast) - - - - - 1 Johan den Dunnen
+?/. - c.1121A>G r.(?) p.(Tyr374Cys) Maternal (confirmed) - likely pathogenic (recessive) g.86067403T>C g.85840280T>C - - ST3GAL5_000023 - PubMed: Rudy 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD patient PubMed: Rudy 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States African-American;white - - - - 1 Johan den Dunnen
+?/. - c.1165C>G r.(?) p.(His389Asp) Paternal (confirmed) - likely pathogenic (recessive) g.86067359G>C g.85840236G>C - - ST3GAL5_000024 - PubMed: Rudy 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD patient PubMed: Rudy 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States African-American;white - - - - 1 Johan den Dunnen
+/. - c.1166A>G r.(?) p.(His389Arg) Both (homozygous) - likely pathogenic (recessive) g.86067358T>C g.85840235T>C - - ST3GAL5_000027 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam11Pat15 PubMed: Heide 2022 - F - Italy Europe - - - - 1 Johan den Dunnen
+?/. - c.1166A>G r.(?) p.(His389Arg) Maternal (confirmed) - likely pathogenic (recessive) g.86067358T>C g.85840235T>C - - ST3GAL5_000027 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam12Pat16 PubMed: Heide 2022 - F - Italy Europe - - - - 1 Johan den Dunnen
+?/. - c.1166A>G r.(?) p.(His389Arg) Parent #2 - likely pathogenic (recessive) g.86067358T>C g.85840235T>C - - ST3GAL5_000027 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam10Pat13 PubMed: Heide 2022 family, 2 affected F - Italy Europe - - - - 2 Johan den Dunnen
+?/. - c.1166A>G r.(?) p.(His389Arg) Parent #2 - likely pathogenic (recessive) g.86067358T>C g.85840235T>C - - ST3GAL5_000027 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam10Pat14 PubMed: Heide 2022 relative F - Italy Europe - - - - 1 Johan den Dunnen
+/. - c.1214dup r.(?) p.(Val406Serfs*10) Paternal (confirmed) - pathogenic (recessive) g.86067312dup g.85840189dup 1214dupG - ST3GAL5_000016 - PubMed: Watanabe 2023 - - Germline yes - - - - DNA SEQ-NG-I - - SPDRS FamPat1 PubMed: Watanabe 2023 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Japan China - - - - 2 Shiena Watanabe
+/. - c.1214dup r.(?) p.(Val406Serfs*10) Paternal (confirmed) - pathogenic (recessive) g.86067312dup g.85840189dup 1214dupG - ST3GAL5_000016 - PubMed: Watanabe 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SPDRS FamPat2 PubMed: Watanabe 2023 sister F no Japan China - - - - 1 Johan den Dunnen
-?/. - c.1247G>T r.(?) p.(Arg416Leu) Unknown - likely benign g.86067277C>A - ST3GAL5(NM_001354247.1):c.524G>T (p.R175L) - ST3GAL5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1255T>C r.(?) p.(Ter419ArgextTer38) Both (homozygous) - likely pathogenic (recessive) g.86067269A>G g.85840146A>G - - ST3GAL5_000026 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam9Pat11 PubMed: Heide 2022 family, 2 affected M - Algeria - - - - - 2 Johan den Dunnen
+?/. - c.1255T>C r.(?) p.(Ter419ArgextTer38) Both (homozygous) - likely pathogenic (recessive) g.86067269A>G g.85840146A>G - - ST3GAL5_000026 - PubMed: Heide 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam9Pat12 PubMed: Heide 2022 relative M - Algeria - - - - - 1 Johan den Dunnen
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