Unique variants in gene ZNF185

Information The variants shown are described using the NM_001178106.1 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
./. 1 - c.397G>A - r.(?) p.(Gly133Ser) g.152086664G>A - ZNF185:NM_001178106.1:c.397G>A, NM_001178107.1:c.397G>A, … - ZNF185_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.653G>T - r.(?) p.(Arg218Met) g.152089292G>T - ZNF185:NM_001178106.1:c.653G>T, NM_001178107.1:c.653G>T, … - ZNF185_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.704C>T - r.(?) p.(Pro235Leu) g.152090767C>T - ZNF185:NM_001178106.1:c.704C>T - ZNF185_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.861del - r.(?) p.(Leu288*) g.152097152del - ZNF185:NM_001178106.1:c.861delC, NM_001178108.1:c.864delC, … - ZNF185_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.1032G>C - r.(?) p.(Gln344His) g.152101429G>C - ZNF185:c.1032G>C (Q344H) - ZNF185_000056 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.1304+3334C>G - r.(=) p.(=) g.152110041C>G g.152941497C>G - - ZNF185_000032 - - - - Germline - - - - - Yu Sun
./. 1 - c.1305-3510A>G - r.(=) p.(=) g.152110301A>G - ZNF185:NM_001178115.1:c.49A>G - ZNF185_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 2 - c.1305-3504G>A - r.(=) p.(=) g.152110307G>A - ZNF185:NM_001178115.1:c.55G>A, ZNF185:c.55G>A (V19M) - ZNF185_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
./. 2 - c.1305-3249G>C - r.(=) p.(=) g.152110562G>C g.152942018G>C - - ZNF185_000034 - - - - Germline - - - - - Yu Sun
./. 1 - c.1305-3166_1305-3165insCT - r.(=) p.(=) g.152110645_152110646insCT g.152942101_152942102insCT - - ZNF185_000051 - - - - Germline - - - - - Yu Sun
./. 1 - c.1305-3165_1305-3164insTC - r.(=) p.(=) g.152110646_152110647insTC g.152942102_152942103insTC - - ZNF185_000037 - - - - Germline - - - - - Yu Sun
./. 1 - c.1384G>A - r.(?) p.(Gly462Ser) g.152113890G>A - ZNF185:c.1384G>A (G462S) - ZNF185_000059 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.1480_1484del - r.(?) p.(Arg495Glufs*9) g.152113986_152113990del - ZNF185:NM_001178106.1:c.1480_1484del - ZNF185_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 2 - c.1502+143_1502+144insTGG - r.(=) p.(=) g.152114151_152114152insTGG g.152945607_152945608insTGG - - ZNF185_000050 - - - - Germline - - - - - Yu Sun
./. 2 - c.1502+148_1502+149insGTG - r.(=) p.(=) g.152114156_152114157insGTG g.152945612_152945613insGTG - - ZNF185_000038 - - - - Germline - - - - - Yu Sun
./. 2 - c.1892+89A>G - r.(=) p.(=) g.152134160A>G g.152965616A>G - - ZNF185_000043 - - - - Germline - - - - - Yu Sun
./. 2 - c.1892+249G>A - r.(=) p.(=) g.152134320G>A g.152965776G>A - - ZNF185_000046 - - - - Germline - - - - - Yu Sun
./. 2 - c.1892+282A>G - r.(=) p.(=) g.152134353A>G g.152965809A>G - - ZNF185_000040 - - - - Germline - - - - - Yu Sun
./. 2 - c.1893-136G>T - r.(=) p.(=) g.152135575G>T g.152967031G>T - - ZNF185_000023 - - - - Germline - - - - - Yu Sun
./. 2 - c.1965-104C>T - r.(=) p.(=) g.152137822C>T g.152969278C>T - - ZNF185_000026 - - - - Germline - - - - - Yu Sun
./. 2 - c.1965-99A>G - r.(=) p.(=) g.152137827A>G g.152969283A>G - - ZNF185_000029 - - - - Germline - - - - - Yu Sun
./. 2 - c.2067+40C>T - r.(=) p.(=) g.152138068C>T g.152969524C>T - - ZNF185_000001 - - - - Germline - - - - - Yu Sun
./. 2 - c.2067+50C>T - r.(=) p.(=) g.152138078C>T g.152969534C>T - - ZNF185_000004 - - - - Germline - - - - - Yu Sun
./. 2 - c.*565C>G - r.(=) p.(=) g.152140382C>G g.152971838C>G - - ZNF185_000007 - - - - Germline - - - - - Yu Sun
./. 2 - c.*972G>T - r.(=) p.(=) g.152140789G>T g.152972245G>T - - ZNF185_000010 - - - - Germline - - - - - Yu Sun
./. 1 - c.*1178del - r.(=) p.(=) g.152140995del g.152972451del - - ZNF185_000049 - - - - Germline - - - - - Yu Sun
./. 2 - c.*1489T>C - r.(=) p.(=) g.152141306T>C g.152972762T>C - - ZNF185_000014 - - - - Germline - - - - - Yu Sun
./. 2 - c.*1672G>A - r.(=) p.(=) g.152141489G>A g.152972945G>A - - ZNF185_000017 - - - - Germline - - - - - Yu Sun
./. 2 - c.*1722G>T - r.(=) p.(=) g.152141539G>T g.152972995G>T - - ZNF185_000020 - - - - Germline - - - - - Yu Sun
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