Full data view for gene ZRSR2

Information The variants shown are described using the NM_005089.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.41+136T>C r.(=) p.(=) Maternal (inferred) - VUS g.15808795T>C g.15790672T>C - - ZRSR2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.41+136T>C r.(=) p.(=) Maternal (inferred) - VUS g.15808795T>C g.15790672T>C - - ZRSR2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.57G>A r.(?) p.(Arg19=) Unknown - likely benign g.15809072G>A - ZRSR2(NM_005089.3):c.57G>A (p.R19=) - CA5B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.122-32A>G r.(=) p.(=) Maternal (inferred) - VUS g.15817963A>G g.15799840A>G - - ZRSR2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.122-32A>G r.(=) p.(=) Maternal (inferred) - VUS g.15817963A>G g.15799840A>G - - ZRSR2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.203+232del r.(=) p.(=) Unknown - VUS g.15818308del g.15800185del - - ZRSR2_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.269A>T r.(?) p.(Lys90Met) Unknown - VUS g.15821876A>T g.15803753A>T ZRSR2(NM_005089.3):c.269A>T (p.K90M) - ZRSR2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.430G>A r.(?) p.(Glu144Lys) Unknown - VUS g.15826386G>A g.15808263G>A ZRSR2(NM_005089.3):c.430G>A (p.E144K) - ZRSR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.557+83T>G r.(=) p.(=) Maternal (inferred) - VUS g.15827524T>G g.15809401T>G - - ZRSR2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.557+83T>G r.(=) p.(=) Maternal (inferred) - VUS g.15827524T>G g.15809401T>G - - ZRSR2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.772-232T>C r.(=) p.(=) Maternal (inferred) - VUS g.15836478T>C g.15818355T>C - - ZRSR2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.772-232T>C r.(=) p.(=) Maternal (inferred) - VUS g.15836478T>C g.15818355T>C - - ZRSR2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.854C>T r.(?) p.(Ser285Phe) Unknown - VUS g.15838356C>T - ZRSR2(NM_005089.3):c.854C>T (p.S285F) - ZRSR2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864C>T r.(=) p.(=) Parent #1 - likely benign g.15838366C>T g.15820243C>T N288N - ZRSR2_000019 recurrent, found 89 times PubMed: Tarpey 2009 - - Germline - 89/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 89 Lucy Raymond
-?/. - c.909C>T r.(=) p.(=) Parent #1 - likely benign g.15838411C>T g.15820288C>T P303P - ZRSR2_000020 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
-?/. - c.930G>A r.(?) p.(Ala310=) Unknown - likely benign g.15838432G>A - ZRSR2(NM_005089.3):c.930G>A (p.(=)) - ZRSR2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.994T>G r.(?) p.(Phe332Val) Unknown - VUS g.15840910T>G g.15822787T>G ZRSR2(NM_005089.3):c.994T>G (p.(Phe332Val)) - ZRSR2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1147C>G r.(?) p.(Pro383Ala) Unknown - likely benign g.15841063C>G g.15822940C>G ZRSR2(NM_005089.4):c.1147C>G (p.(Pro383Ala)) - ZRSR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1201C>T r.(?) p.(Arg401Cys) Unknown - likely benign g.15841117C>T g.15822994C>T ZRSR2(NM_005089.3):c.1201C>T (p.(Arg401Cys)) - ZRSR2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1332_1343del r.(?) p.(Ser445_Arg448del) Unknown - likely benign g.15841248_15841259del g.15823125_15823136del ZRSR2(NM_005089.3):c.1315_1326del (p.(Arg440_Ser443del)) - ZRSR2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1332_1343dup r.(?) p.(Ser445_Arg448dup) Unknown - VUS g.15841248_15841259dup g.15823125_15823136dup ZRSR2(NM_005089.3):c.1314_1315insAGCCGGAGCCGG (p.(Gly438_Ser439insSerArgSerArg)) - ZRSR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1338_1343del r.(?) p.(Ser447_Arg448del) Unknown - VUS g.15841254_15841259del g.15823131_15823136del ZRSR2(NM_005089.3):c.1315_1320del (p.(Arg440_Ser441del)) - ZRSR2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1338_1343dup r.(?) p.(Ser447_Arg448dup) Unknown - likely benign g.15841254_15841259dup g.15823131_15823136dup ZRSR2(NM_005089.3):c.1338_1343dup (p.(Ser447_Arg448dup)) - ZRSR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1354C>T r.(?) p.(Arg452Cys) Unknown - likely benign g.15841270C>T g.15823147C>T ZRSR2(NM_005089.3):c.1354C>T (p.R452C) - ZRSR2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1354C>T r.(?) p.(Arg452Cys) Unknown - likely benign g.15841270C>T - ZRSR2(NM_005089.3):c.1354C>T (p.R452C) - ZRSR2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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