Full data view for gene SSR4

Information The variants shown are described using the NM_006280.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.-349337_*546018dup r.0? p.0? Maternal (confirmed) - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - - - - 2 Johan den Dunnen
-?/. - c.-4472A>C r.(?) p.(=) Unknown - likely benign g.153055671A>C g.153790216A>C IDH3G(NM_004135.3):c.212T>G (p.(Leu71Arg)) - SRPK3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3846C>T r.(?) p.(=) Unknown - likely benign g.153056297C>T - IDH3G(NM_004135.4):c.91G>A (p.(Ala31Thr)) - SSR4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5_4dup r.(?) p.(Ala2Aspfs*40) Unknown - VUS g.153060138_153060146dup - SSR4(NM_001204527.1):c.20_28dupAGGCGATGG (p.E7_M9dup) - SSR4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-124_(66_?){0} r.0? p.0? Unknown - pathogenic (recessive) g.(?_153034617)_(153060208_?)del - chr.X:153,034,617-153,060,208 - SSR4_000022 del Xq28, genes SSR4, PLXNB3, SRPK3, IDH3G PubMed: Mahler 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat19 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - 1 Johan den Dunnen
+/. _1_6_ c.0 r.0 p.0 Maternal (confirmed) - pathogenic g.153031975_153105401del g.153766520_153839946del - - SSR4_000004 - - - - Germline yes - - - - DNA arrayCNV Blood - CDG1 - - - M - United States - - - - - 1 Bobby Ng
-?/. - c.45G>C r.(?) p.(Leu15=) Unknown - likely benign g.153060187G>C g.153794732G>C SSR4(NM_001204527.1):c.69G>C (p.L23=) - SSR4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63C>T r.(?) p.(Cys21=) Unknown - likely benign g.153060205C>T g.153794750C>T SSR4(NM_001204527.1):c.87C>T (p.C29=) - SSR4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.68-333G>C r.= p.= Parent #1 - benign g.153061556G>C g.153796101G>C - - SSR4_000017 bi-allelic expression observed, gene escapes X-inactivation (5 informative cases) Shvetsova, submitted - rs6643794 Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood - - SSR4-var1 Shvetsova, submitted RNAseq trio analysis F no Netherlands - - - - - 1 Johan den Dunnen
-/. 1i c.68-172T>C r.= p.= Parent #1 - benign g.153061717T>C g.153796262T>C - - SSR4_000016 bi-allelic expression observed, gene escapes X-inactivation (1 informative case) Shvetsova, submitted - rs150497073 Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood - - SSR4-var2 Shvetsova, submitted RNAseq trio analysis F no Netherlands - - - - - 1 Johan den Dunnen
-/. 1i c.68-114= r.= p.= Parent #2 - benign g.153061775= g.153796320= - - SSR4_000015 bi-allelic expression observed, gene escapes X-inactivation (9 informative cases) Shvetsova, submitted - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood - Healthy/Control SSR4-var3 Shvetsova, submitted RNAseq trio analysis F no Netherlands - - - - - 9 Johan den Dunnen
-?/. 1i c.68-114A>G r.= p.= Parent #1 - likely benign g.153061775A>G g.153796320A>G ENSG00000180879: ... - SSR4_000014 bi-allelic expression observed, gene escapes X-inactivation (9 informative cases) Shvetsova, submitted - rs2239714 Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood - Healthy/Control SSR4-var3 Shvetsova, submitted RNAseq trio analysis F no Netherlands - - - - - 9 Johan den Dunnen
-?/. - c.102C>T r.(?) p.(Ser34=) Unknown - likely benign g.153061923C>T - SSR4(NM_001204527.1):c.126C>T (p.S42=) - SSR4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120C>T r.(?) p.(Asp40=) Unknown - likely benign g.153061941C>T g.153796486C>T SSR4(NM_001204527.1):c.144C>T (p.D48=) - SSR4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162C>T r.(?) p.(Ser54=) Unknown - likely benign g.153061983C>T - SSR4(NM_001204527.1):c.186C>T (p.S62=) - SSR4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186+11G>C r.(=) p.(=) Unknown - likely benign g.153062018G>C - SSR4(NM_001204526.1):c.219+11G>C - SSR4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.187-141T>C r.(?) p.(=) Maternal (inferred) - likely benign g.153062772T>C g.153797317T>C - - SSR4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 2i c.187-141T>C r.(?) p.(=) Maternal (inferred) - likely benign g.153062772T>C g.153797317T>C - - SSR4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.188_351del r.0? p.0? Unknown - pathogenic g.153062612_153063511del - - - SSR4_000007 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. - - - De novo yes - - - - DNA SEQ-NG blood - CDG1 - - - M - - Asian - - - - 1 Bobby Ng
+/. 4 c.317del r.(?) p.(Phe106Serfs*54) Unknown - pathogenic g.153063235del g.153797780del 316delT (F106Sfs*53) - SSR4_000002 cells show absence of SSR4 protein, 0.5 reduced levels of SSR1-3 PubMed: Losfeld 2014, Journal: Losfeld 2014, OMIM:var0001 - - De novo - - - - - DNA SEQ-NG - - CDG1 - PubMed: Losfeld 2014, Journal: Losfeld 2014 2-generation family, 1 affected M no United States - >16y - - - 1 Bobby Ng
-?/. - c.352-18C>T r.(=) p.(=) Unknown - likely benign g.153063508C>T - SSR4(NM_001204526.1):c.385-18C>T - SSR4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.358_359del r.(?) p.(Arg120Glufs*2) Unknown - pathogenic g.153063532_153063533del g.153798077_153798078del 356_357delAG - SSR4_000005 - - - - De novo yes - - - - DNA SEQ-NG Blood - CDG1 - - - M - Brazil - - - - - 1 Bobby Ng
+?/. - c.362_371del r.(?) p.(Asn121ThrfsTer36) Unknown - likely pathogenic g.153063536_153063545del g.153798081_153798090del SSR4(NM_001204526.1):c.390_399del (p.(Asn132ThrfsTer36)) - SSR4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.417+1G>A r.spl p.? Unknown - pathogenic g.153063592G>A g.153798137G>A - - SSR4_000003 - - - - De novo yes - - - - DNA SEQ-NG Blood - CDG1 - - - M - United States - - - - - 1 Bobby Ng
+/. - c.418-1G>C r.spl p.? Unknown - pathogenic g.153063783G>C g.153798328G>C 442-1G>C - SSR4_000006 - - - - Germline yes - - - - DNA SEQ-NG Blood - CDG1 - - - M - United States - - - - - 1 Bobby Ng
-?/. - c.494T>A r.(?) p.(Phe165Tyr) Unknown - likely benign g.153063860T>A - SSR4(NM_001204527.1):c.518T>A (p.F173Y) - SSR4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2G>A r.(=) p.(=) Unknown - VUS g.153063890G>A - SSR4(NM_001204526.1):c.*2G>A - SSR4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5039T>G r.(=) p.(=) Unknown - VUS g.153068927T>G g.153803472T>G PDZD4(NM_032512.2):c.2191A>C (p.(Lys731Gln)) - PDZD4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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