Unique variants in gene ZNF41

Information The variants shown are described using the NM_007130.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
Legend  

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.-429_-426dup r.(?) p.(=) - VUS g.47342005_47342008dup g.47482606_47482609dup - - ZNF41_000010 - - - - Germline - - - - - Yu Sun
?/. 1 - c.-427_-426del r.(?) p.(=) - VUS g.47342007_47342008del g.47482608_47482609del - - ZNF41_000011 - - - - Germline - - - - - Yu Sun
?/. 1 - c.-422_-421insGCGCGC r.(?) p.(=) - VUS g.47342002_47342003insCGCGCG g.47482603_47482604insCGCGCG - - ZNF41_000008 - - - - Germline - - - - - Yu Sun
?/. 1 - c.-422_-421insGCGCGCACGC r.(?) p.(=) - VUS g.47342008_47342009insCGCGTGCGCG g.47482609_47482610insCGCGTGCGCG - - ZNF41_000012 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-307G>A r.(?) p.(=) - VUS g.47341885C>T g.47482486C>T - - ZNF41_000005 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-280+78A>G r.(=) p.(=) - VUS g.47341780T>C g.47482381T>C - - ZNF41_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.-231A>G r.(=) p.(=) - VUS g.47327111T>C g.47467712T>C - - ZNF41_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 2 - c.88G>A r.(?) p.(Glu30Lys) - likely benign g.47315782C>T g.47456383C>T ZNF41(NM_007130.3):c.88G>A (p.E30K), ZNF41(NM_153380.3):c.88G>A (p.E30K) - ZNF41_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
?/. 1 - c.281A>G r.(?) p.(His94Arg) - VUS g.47315334T>C g.47455935T>C ZNF41(NM_007130.3):c.281A>G (p.H94R) - ZNF41_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.301G>A r.(?) p.(Ala101Thr) - likely benign g.47308868C>T - ZNF41(NM_007130.3):c.301G>A (p.A101T) - ZNF41_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 4 - c.332C>T r.(?) p.(Pro111Leu) - likely benign, VUS g.47308837G>A g.47449438G>A ZNF41(NM_007130.2):c.332C>T (p.(Pro111Leu)), ZNF41(NM_007130.3):c.332C>T (p.P111L) - ZNF41_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Leiden, VKGL-NL_Groningen
-/., ?/. 3 5 c.374T>G r.(?) p.(Ile125Arg) - benign, VUS g.47308795A>C g.47449396A>C I125R - ZNF41_000030 44 heterozygous; Clinindb (India), 45 homozygous; Clinindb (India), recurrent, found 6 times Faruq 2020, submtted, PubMed: Tarpey 2009 - - Germline - 44/2795 individuals, 45/2795 individuals, 6/208 cases - - - Mohammed Faruq, Lucy Raymond
?/. 1 - c.522A>C r.(?) p.(Lys174Asn) - VUS g.47308647T>G g.47449248T>G ZNF41(NM_007130.3):c.522A>C (p.K174N) - ZNF41_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.590A>G r.(?) p.(Lys197Arg) - benign, likely benign g.47308579T>C g.47449180T>C ZNF41(NM_007130.2):c.590A>G (p.(Lys197Arg)), ZNF41(NM_007130.3):c.590A>G (p.K197R) - ZNF41_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.664A>G r.(?) p.(Asn222Asp) - likely benign g.47308505T>C g.47449106T>C ZNF41(NM_007130.3):c.664A>G (p.N222D) - ZNF41_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 2 - c.746A>C r.(?) p.(Glu249Ala) - benign, VUS g.47308423T>G g.47449024T>G ZNF41(NM_007130.2):c.746A>C (p.(Glu249Ala)), ZNF41(NM_007130.3):c.746A>C (p.E249A) - ZNF41_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 5 c.786G>A r.(?) p.(=) - likely benign g.47308383C>T g.47448984C>T Q262Q - ZNF41_000029 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
-?/. 1 - c.801G>A r.(?) p.(Glu267=) - likely benign g.47308368C>T - ZNF41(NM_007130.3):c.801G>A (p.E267=) - ZNF41_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.823G>A r.(?) p.(Glu275Lys) - likely benign g.47308346C>T g.47448947C>T ZNF41(NM_007130.3):c.823G>A (p.E275K) - ZNF41_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.896G>A r.(?) p.(Arg299His) - likely benign g.47308273C>T g.47448874C>T ZNF41(NM_007130.3):c.896G>A (p.R299H) - ZNF41_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.901T>C r.(?) p.(Cys301Arg) - likely benign g.47308268A>G g.47448869A>G ZNF41(NM_007130.2):c.901T>C (p.(Cys301Arg)) - ZNF41_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 5 c.945T>G r.(?) p.(Asp315Glu) - likely benign, VUS g.47308224A>C g.47448825A>C ZNF41(NM_007130.2):c.945T>G (p.(Asp315Glu)), ZNF41(NM_007130.3):c.945T>G (p.D315E), D315E - ZNF41_000020 VKGL data sharing initiative Nederland, recurrent, found 4 times PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 4/208 cases - - - VKGL-NL_Groningen, VKGL-NL_Leiden, Lucy Raymond
?/. 1 - c.1051G>A r.(?) p.(Gly351Arg) - VUS g.47308118C>T g.47448719C>T ZNF41(NM_007130.3):c.1051G>A (p.G351R) - ZNF41_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1232A>G r.(?) p.(Tyr411Cys) - benign g.47307937T>C g.47448538T>C ZNF41(NM_007130.3):c.1232A>G (p.Y411C) - ZNF41_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1324G>A r.(?) p.(Ala442Thr) - likely benign g.47307845C>T g.47448446C>T ZNF41(NM_007130.3):c.1324G>A (p.A442T) - ZNF41_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1446C>G r.(?) p.(Leu482=) - likely benign g.47307723G>C - ZNF41(NM_007130.3):c.1446C>G (p.L482=) - ZNF41_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 5 c.1578T>A r.(?) p.(Ala526=), p.(=) - benign, likely benign g.47307591A>T g.47448192A>T ZNF41(NM_007130.3):c.1578T>A (p.A526=), A526A - ZNF41_000017 VKGL data sharing initiative Nederland, found once, nonrecurrent change PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - VKGL-NL_Rotterdam, Lucy Raymond
?/. 1 5 c.1597A>G r.(?) p.(Thr533Ala) - VUS g.47307572T>C g.47448173T>C T533A - ZNF41_000028 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1652A>G r.(?) p.(Tyr551Cys) - VUS g.47307517T>C g.47448118T>C ZNF41(NM_007130.2):c.1652A>G (p.(Tyr551Cys)) - ZNF41_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1736A>G r.(?) p.(Tyr579Cys) - VUS g.47307433T>C g.47448034T>C ZNF41(NM_007130.3):c.1736A>G (p.Y579C) - ZNF41_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1934C>T r.(?) p.(Thr645Ile) - VUS g.47307235G>A - ZNF41(NM_007130.3):c.1934C>T (p.T645I) - ZNF41_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1988A>G r.(?) p.(Asn663Ser) - likely benign g.47307181T>C g.47447782T>C ZNF41(NM_007130.2):c.1988A>G (p.(Asn663Ser)) - ZNF41_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/., -?/., -/. 5 5 c.1997C>T r.(?) p.(Ala666Val) - VUS, likely benign, benign g.47307172G>A g.47447773G>A ZNF41(NM_007130.2):c.1997C>T (p.(Ala666Val)), ZNF41(NM_007130.3):c.1997C>T (p.A666V), A666V - ZNF41_000013 VKGL data sharing initiative Nederland, 15 heterozygous; Clinindb (India), 2 more items Faruq 2020, submtted, PubMed: Tarpey 2009 - rs144970008 CLASSIFICATION record, Germline - 15/2795 individuals, 5/2795 individuals, 1/208 cases - - - VKGL-NL_Leiden, Mohammed Faruq, Lucy Raymond, VKGL-NL_Rotterdam
-?/. 2 - c.2114G>A r.(?) p.(Arg705His) - likely benign g.47307055C>T g.47447656C>T ZNF41(NM_007130.2):c.2114G>A (p.(Arg705His)), ZNF41(NM_007130.3):c.2114G>A (p.R705H) - ZNF41_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.2116C>T r.(?) p.(Leu706Phe) - likely benign g.47307053G>A - ZNF41(NM_007130.3):c.2116C>T (p.L706F) - ZNF41_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2144G>A r.(?) p.(Gly715Glu) - VUS g.47307025C>T g.47447626C>T ZNF41(NM_007130.2):c.2144G>A (p.(Gly715Glu)) - ZNF41_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2145A>G r.(?) p.(Gly715=) - likely benign g.47307024T>C g.47447625T>C ZNF41(NM_007130.3):c.2145A>G (p.G715=) - ZNF41_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2215A>T r.(?) p.(Ile739Leu) - likely benign g.47306954T>A g.47447555T>A ZNF41(NM_007130.3):c.2215A>T (p.I739L) - ZNF41_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2259G>A r.(?) p.(Gln753=) - likely benign g.47306910C>T g.47447511C>T ZNF41(NM_007130.3):c.2259G>A (p.Q753=) - ZNF41_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2310T>C r.(?) p.(Ser770=) - likely benign g.47306859A>G g.47447460A>G ZNF41(NM_007130.3):c.2310T>C (p.S770=) - ZNF41_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend