Unique variants in the POLR2L gene

Information The variants shown are described using the NM_021128.4 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.*2254G>A r.(=) p.(=) - likely benign g.838118C>T - CD151(NM_004357.5):c.703-15C>T - CD151_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*2257T>C r.(=) p.(=) - likely benign g.838115A>G - CD151(NM_004357.5):c.703-18A>G - CD151_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*2338C>A r.(=) p.(=) - likely benign g.838034G>T - CD151(NM_004357.5):c.702+6G>T - CD151_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*2396T>C r.(=) p.(=) - likely benign g.837976A>G g.837976A>G CD151(NM_001039490.1):c.650A>G (p.(Gln217Arg)) - CD151_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*2408T>G r.(=) p.(=) - VUS g.837964A>C - CD151(NM_004357.5):c.638A>C (p.(Glu213Ala)) - CD151_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*2709del r.(?) p.(=) - benign g.837669del g.837669del CD151(NM_004357.5):c.615+51delG - CD151_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.*2710A>C r.(=) p.(=) - benign g.837662T>G g.837662T>G CD151(NM_004357.5):c.615+44_615+45delTGinsGG - CD151_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.*2790C>T r.(=) p.(=) - benign g.837582G>A g.837582G>A CD151(NM_004357.5):c.579G>A (p.G193=) - CD151_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*2835A>G r.(=) p.(=) - likely benign g.837537T>C g.837537T>C CD151(NM_004357.5):c.534T>C (p.R178=) - CD151_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*2889G>A r.(=) p.(=) - likely benign g.837483C>T g.837483C>T CD151(NM_004357.5):c.480C>T (p.N160=) - CD151_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*3095T>G r.(=) p.(=) - VUS g.837277A>C - CD151(NM_004357.5):c.379A>C (p.(Lys127Gln)) - CD151_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3125G>T r.(=) p.(=) - likely benign g.837247C>A g.837247C>A CD151(NM_001039490.1):c.352-3C>A (p.?) - CD151_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*3612G>C r.(=) p.(=) - VUS g.836760C>G - CD151(NM_004357.5):c.277-9C>G - CD151_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.*3613dup r.(?) p.(=) - likely benign g.836766dup g.836766dup CD151(NM_004357.5):c.277-2delAinsCA, CD151(NM_004357.5):c.277-3dupC - CD151_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.*3832del r.(?) p.(=) - benign g.836549del g.836549del CD151(NM_004357.5):c.276+107delG - CD151_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*3954C>A r.(=) p.(=) - likely benign g.836418G>T - CD151(NM_004357.5):c.252G>T (p.K84N) - CD151_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*3965C>T r.(=) p.(=) - VUS g.836407G>A - CD151(NM_004357.5):c.241G>A (p.A81T) - CD151_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*3966G>A r.(=) p.(=) - likely benign g.836406C>T - CD151(NM_004357.5):c.240C>T (p.C80=) - CD151_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.*3992T>C r.(=) p.(=) - VUS g.836380A>G - CD151(NM_004357.4):c.214A>G (p.M72V) - CD151_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*4021T>C r.(=) p.(=) - VUS g.836351A>G - CD151(NM_004357.5):c.185A>G (p.(Tyr62Cys)) - CD151_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*4194_*4199del r.(=) p.(=) - likely benign g.836189_836194del - CD151(NM_004357.5):c.84+36_84+41delCACCCC - CD151_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.*4206G>A r.(=) p.(=) - benign, likely benign g.836166C>T g.836166C>T CD151(NM_004357.5):c.84+13C>T - CD151_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.*4248G>C r.(=) p.(=) - VUS g.836124C>G - CD151(NM_004357.5):c.55C>G (p.(Leu19Val)) - CD151_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*4280T>G r.(=) p.(=) - likely benign g.836092A>C - CD151(NM_004357.5):c.23A>C (p.K8T) - CD151_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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