Full data view for gene STT3A

Information The variants shown are described using the NM_152713.4 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.137A>G r.(?) p.(His46Arg) Unknown - pathogenic (dominant) g.125467002A>G g.125597107A>G - - STT3A_000013 - PubMed: Wilson 2021, Journal: Wilson 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - CDG Fam3PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - 1 Johan den Dunnen
+/. - c.479G>A r.(?) p.(Arg160Gln) Unknown - pathogenic (dominant) g.125474113G>A g.125604218G>A - - STT3A_000014 - PubMed: Wilson 2021, Journal: Wilson 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - CDG Fam4PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - 1 Johan den Dunnen
+?/. - c.479G>A r.(?) p.(Arg160Gln) Unknown - likely pathogenic g.125474113G>A - STT3A(NM_001278503.2):c.479G>A (p.R160Q) - STT3A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.780+5G>A r.spl? p.? Unknown - VUS g.125476365G>A - STT3A(NM_001278503.1):c.780+5G>A - STT3A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.801C>A r.(?) p.(His267Gln) Unknown - VUS g.125478024C>A - STT3A(NM_001278503.2):c.801C>A (p.H267Q) - STT3A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.885_886del r.(?) p.(Phe295Leufs*45) Unknown - VUS g.125478108_125478109del - STT3A(NM_152713.5):c.885_886del (p.(Phe295Leufs*45)) - STT3A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.980C>T r.(?) p.(Thr327Met) Unknown - VUS g.125479347C>T g.125609452C>T - - STT3A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.985C>T r.(?) p.(Arg329Cys) Unknown - likely pathogenic g.125479352C>T - - - STT3A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.985C>T r.(?) p.(Arg329Cys) Unknown - pathogenic (dominant) g.125479352C>T g.125609457C>T - - STT3A_000011 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline/De novo (untested) yes - - - - DNA SEQ, SEQ-NG - - CDG Fam9PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected mother/son F no - Europe - - - - 2 Johan den Dunnen
+/. - c.985C>T r.(?) p.(Arg329Cys) Maternal (confirmed) - pathogenic (dominant) g.125479352C>T g.125609457C>T - - STT3A_000011 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CDG Fam9PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 son M no - Europe - - - - 1 Johan den Dunnen
+/. - c.1213C>T r.(?) p.(Arg405Cys) Unknown - pathogenic (dominant) g.125482490C>T g.125612595C>T - - STT3A_000015 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - CDG Fam5PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - 1 Johan den Dunnen
+/. - c.1213C>T r.(?) p.(Arg405Cys) Unknown - pathogenic (dominant) g.125482490C>T g.125612595C>T - - STT3A_000015 - PubMed: Wilson 2021, Journal: Wilson 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - CDG Fam6PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected F no - Europe - - - - 1 Johan den Dunnen
+/. - c.1213C>T r.(?) p.(Arg405Cys) Unknown - pathogenic (dominant) g.125482490C>T g.125612595C>T - - STT3A_000015 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - CDG Fam7PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, 1 affected M no Turkey - - - - - 1 Johan den Dunnen
+/. - c.1214G>A r.(?) p.(Arg405His) Unknown - pathogenic (dominant) g.125482491G>A g.125612596G>A - - STT3A_000016 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline/De novo (untested) yes - - - - DNA SEQ, SEQ-NG - - CDG Fam8PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected father/daugther/2 sons M no Australia Anglo-Australian - - - - 4 Johan den Dunnen
+/. - c.1214G>A r.(?) p.(Arg405His) Paternal (confirmed) - pathogenic (dominant) g.125482491G>A g.125612596G>A - - STT3A_000016 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CDG Fam8PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 son M no Australia Anglo-Australian - - - - 1 Johan den Dunnen
+/. - c.1214G>A r.(?) p.(Arg405His) Paternal (confirmed) - pathogenic (dominant) g.125482491G>A g.125612596G>A - - STT3A_000016 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CDG Fam8PatII.2 PubMed: Wilson 2021, Journal: Wilson 2021 son M no Australia Anglo-Australian - - - - 1 Johan den Dunnen
+/. - c.1214G>A r.(?) p.(Arg405His) Paternal (confirmed) - pathogenic (dominant) g.125482491G>A g.125612596G>A - - STT3A_000016 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CDG Fam8PatII.3 PubMed: Wilson 2021, Journal: Wilson 2021 daugther F no Australia Anglo-Australian - - - - 1 Johan den Dunnen
-/. - c.1464T>C r.(=) p.(=) Parent #1 - benign g.125482982T>C g.125613087T>C - - STT3A_000008 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34079079 Germline - 13/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 13 Mohammed Faruq
?/. - c.1534C>T r.(?) p.(Leu512Phe) Unknown - VUS g.125483052C>T - STT3A(NM_152713.5):c.1534C>T (p.(Leu512Phe)) - STT3A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559C>T r.(?) p.(Ala520Val) Unknown - VUS g.125483986C>T - STT3A(NM_152713.5):c.1559C>T (p.(Ala520Val)) - STT3A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1559C>T r.(?) p.(Ala520Val) Unknown - VUS g.125483986C>T - STT3A(NM_152713.5):c.1559C>T (p.(Ala520Val)) - STT3A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1589A>C r.(?) p.(Tyr530Ser) Unknown - pathogenic (dominant) g.125484016A>C g.125614121A>C - - STT3A_000017 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CDG Fam2PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected father/daugther M - - Europe - - - - 2 Johan den Dunnen
+/. - c.1589A>C r.(?) p.(Tyr530Ser) Paternal (confirmed) - pathogenic (dominant) g.125484016A>C g.125614121A>C - - STT3A_000017 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CDG Fam2PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 daugther F - - Europe - - - - 1 Johan den Dunnen
+/. - c.1637C>T r.(?) p.(Thr546Ile) Unknown - pathogenic (dominant) g.125484064C>T g.125614169C>T - - STT3A_000018 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CDG Fam1PatI.1 PubMed: Wilson 2021, Journal: Wilson 2021 2-generation family, affected mother/2 sons F - - Europe - - - - 3 Johan den Dunnen
+/. - c.1637C>T r.(?) p.(Thr546Ile) Maternal (confirmed) - pathogenic (dominant) g.125484064C>T g.125614169C>T - - STT3A_000018 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CDG Fam1PatII.1 PubMed: Wilson 2021, Journal: Wilson 2021 son M - - Europe - - - - 1 Johan den Dunnen
+/. - c.1637C>T r.(?) p.(Thr546Ile) Maternal (confirmed) - pathogenic (dominant) g.125484064C>T g.125614169C>T - - STT3A_000018 - PubMed: Wilson 2021, Journal: Wilson 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CDG Fam1PatII.3 PubMed: Wilson 2021, Journal: Wilson 2021 son M - - Europe - - - - 1 Johan den Dunnen
-?/. - c.1672-4C>T r.spl? p.? Unknown - likely benign g.125484215C>T - STT3A(NM_152713.5):c.1672-4C>T - STT3A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1752C>G r.(?) p.(Gly584=) Unknown - likely benign g.125484299C>G - STT3A(NM_001278503.1):c.1752C>G (p.G584=) - STT3A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1775-7C>T r.(=) p.(=) Unknown - likely benign g.125488261C>T g.125618366C>T STT3A(NM_001278503.1):c.1775-7C>T (p.(=)) - STT3A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1775-7_1785del r.spl? p.? Unknown - likely benign g.125488261_125488278del g.125618366_125618383del STT3A(NM_001278503.1):c.1775-7_1785del (p.?) - STT3A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1775-5C>T r.spl? p.? Unknown - likely benign g.125488263C>T g.125618368C>T STT3A(NM_001278503.1):c.1775-5C>T (p.?) - STT3A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1775-4C>T r.spl? p.? Unknown - likely benign g.125488264C>T g.125618369C>T STT3A(NM_001278503.1):c.1775-4C>T (p.?) - STT3A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1789C>T r.(?) p.(Leu597Phe) Unknown - likely benign g.125488282C>T g.125618387C>T STT3A(NM_001278503.1):c.1789C>T (p.(Leu597Phe)) - STT3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1877T>C r.(?) p.(Val626Ala) Both (homozygous) - pathogenic (recessive) g.125488370T>C g.125618475T>C - - STT3A_000012 - PubMed: Shrimal 2013 - - Germline - - - - - DNA SEQ - - CDG Fam1Pat1 PubMed: Shrimal 2013 2-generation family, affected sister/brother, unaffected heterozygous carrier parents; brother M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.1877T>C r.(?) p.(Val626Ala) Both (homozygous) - pathogenic (recessive) g.125488370T>C g.125618475T>C - - STT3A_000012 - PubMed: Ghosh 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - CDG FamPatIV1 PubMed: Ghosh 2017 4-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 7 Johan den Dunnen
+/. - c.1877T>C r.(?) p.(Val626Ala) Both (homozygous) - pathogenic (recessive) g.125488370T>C g.125618475T>C - - STT3A_000012 - PubMed: Ghosh 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - CDG FamPatIV2 PubMed: Ghosh 2017 PatIV2 M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1877T>C r.(?) p.(Val626Ala) Both (homozygous) - pathogenic (recessive) g.125488370T>C g.125618475T>C - - STT3A_000012 - PubMed: Ghosh 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - CDG FamPatIII7 PubMed: Ghosh 2017 PatIII7 F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1877T>C r.(?) p.(Val626Ala) Both (homozygous) - pathogenic (recessive) g.125488370T>C g.125618475T>C - - STT3A_000012 - PubMed: Ghosh 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - CDG FamPatIII8 PubMed: Ghosh 2017 PatIII8 F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1877T>C r.(?) p.(Val626Ala) Both (homozygous) - pathogenic (recessive) g.125488370T>C g.125618475T>C - - STT3A_000012 - PubMed: Ghosh 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - CDG FamPatIII9 PubMed: Ghosh 2017 PatIII9 F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1877T>C r.(?) p.(Val626Ala) Unknown - pathogenic g.125488370T>C - STT3A(NM_152713.4):c.1877T>C (p.(Val626Ala)) - STT3A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1880A>G r.(?) p.(Asp627Gly) Unknown - VUS g.125488373A>G - STT3A(NM_152713.4):c.1880A>G (p.(Asp627Gly)) - STT3A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1922A>G r.(?) p.(Lys641Arg) Unknown - VUS g.125488415A>G - STT3A(NM_152713.5):c.1922A>G (p.(Lys641Arg)) - STT3A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1924A>C r.(?) p.(Met642Leu) Unknown - VUS g.125488417A>C g.125618522A>C STT3A(NM_001278503.2):c.1924A>C (p.M642L) - STT3A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1948G>A r.(?) p.(Val650Ile) Unknown - VUS g.125488441G>A - STT3A(NM_001278503.2):c.1948G>A (p.V650I) - STT3A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2090T>C r.(?) p.(Leu697Pro) Unknown - likely benign g.125490677T>C - STT3A(NM_152713.4):c.2090T>C (p.(Leu697Pro)) - ACRV1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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