All transcript variants in gene ZNF41

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

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

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     
?/. - c.-431_-430insCGCG - - p.(=) g.47342008_47342009insCGCG g.47482609_47482610insCGCG - - ZNF41_000010 - - - - Germline - - - - - Yu Sun
?/. - c.-430_-429del - - p.(=) g.47342007_47342008del g.47482608_47482609del - - ZNF41_000011 - - - - Germline - - - - - Yu Sun
?/. - c.-425_-424insCGCGCG - - p.(=) g.47342002_47342003insCGCGCG g.47482603_47482604insCGCGCG - - ZNF41_000008 - - - - Germline - - - - - Yu Sun
?/. - c.-422_-421insGCGCGCACGC - - p.(=) g.47341999_47342000insGCGTGCGCGC g.47482600_47482601insGCGTGCGCGC - - ZNF41_000012 - - - - Germline - - - - - Yu Sun
?/. - c.-307G>A - - p.(=) g.47341885C>T g.47482486C>T - - ZNF41_000005 - - - - Germline - - - - - Yu Sun
?/. - c.-307G>A - - p.(=) g.47341885C>T g.47482486C>T - - ZNF41_000005 - - - - Germline - - - - - Yu Sun
?/. - c.-280+78A>G - - p.(=) g.47341780T>C g.47482381T>C - - ZNF41_000002 - - - - Germline - - - - - Yu Sun
?/. - c.-280+78A>G - - p.(=) g.47341780T>C g.47482381T>C - - ZNF41_000002 - - - - Germline - - - - - Yu Sun
?/. - c.-231A>G - r.(=) p.(=) g.47327111T>C g.47467712T>C - - ZNF41_000001 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
-?/. - c.88G>A likely benign r.(?) p.(Glu30Lys) g.47315782C>T - ZNF41(NM_007130.3):c.88G>A (p.E30K) - ZNF41_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.281A>G VUS r.(?) p.(His94Arg) g.47315334T>C - ZNF41(NM_007130.3):c.281A>G (p.H94R) - ZNF41_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.332C>T likely benign r.(?) p.(Pro111Leu) g.47308837G>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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.332C>T VUS r.(?) p.(Pro111Leu) g.47308837G>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 - - - 0 - VKGL-NL_Leiden
-?/. - c.332C>T likely benign r.(?) p.(Pro111Leu) g.47308837G>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_Groningen
-?/. - c.332C>T likely benign r.(?) p.(Pro111Leu) g.47308837G>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_Utrecht
?/. 5 c.374T>G - r.(?) p.(Ile125Arg) g.47308795A>C - I125R - ZNF41_000030 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - 0 - Lucy Raymond
?/. - c.522A>C VUS r.(?) p.(Lys174Asn) g.47308647T>G - ZNF41(NM_007130.3):c.522A>C (p.K174N) - ZNF41_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.590A>G benign r.(?) p.(Lys197Arg) g.47308579T>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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.590A>G likely benign r.(?) p.(Lys197Arg) g.47308579T>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 - - - 0 - VKGL-NL_Leiden
-?/. - c.664A>G likely benign r.(?) p.(Asn222Asp) g.47308505T>C - ZNF41(NM_007130.3):c.664A>G (p.N222D) - ZNF41_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.746A>C benign r.(?) p.(Glu249Ala) g.47308423T>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 - - - 0 - VKGL-NL_Rotterdam
?/. - c.746A>C VUS r.(?) p.(Glu249Ala) g.47308423T>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 - - - 0 - VKGL-NL_Leiden
-?/. 5 c.786G>A - r.(?) p.(=) g.47308383C>T - Q262Q - ZNF41_000029 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - 0 - Lucy Raymond
-?/. - c.823G>A likely benign r.(?) p.(Glu275Lys) g.47308346C>T - ZNF41(NM_007130.3):c.823G>A (p.E275K) - ZNF41_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.896G>A likely benign r.(?) p.(Arg299His) g.47308273C>T - ZNF41(NM_007130.3):c.896G>A (p.R299H) - ZNF41_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.901T>C likely benign r.(?) p.(Cys301Arg) g.47308268A>G - ZNF41(NM_007130.2):c.901T>C (p.(Cys301Arg)) - ZNF41_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.945T>G likely benign r.(?) p.(Asp315Glu) g.47308224A>C - ZNF41(NM_007130.2):c.945T>G (p.(Asp315Glu)), ZNF41(NM_007130.3):c.945T>G (p.D315E) - ZNF41_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 5 c.945T>G - r.(?) p.(Asp315Glu) g.47308224A>C - D315E - ZNF41_000020 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - 0 - Lucy Raymond
-?/. - c.945T>G likely benign r.(?) p.(Asp315Glu) g.47308224A>C - ZNF41(NM_007130.2):c.945T>G (p.(Asp315Glu)), ZNF41(NM_007130.3):c.945T>G (p.D315E) - ZNF41_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1051G>A VUS r.(?) p.(Gly351Arg) g.47308118C>T - ZNF41(NM_007130.3):c.1051G>A (p.G351R) - ZNF41_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1232A>G benign r.(?) p.(Tyr411Cys) g.47307937T>C - ZNF41(NM_007130.3):c.1232A>G (p.Y411C) - ZNF41_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1578T>A benign r.(?) p.(=) g.47307591A>T - ZNF41(NM_007130.3):c.1578T>A (p.A526=) - ZNF41_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. 5 c.1578T>A - r.(?) p.(=) g.47307591A>T - A526A - ZNF41_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. 5 c.1597A>G - r.(?) p.(Thr533Ala) g.47307572T>C - T533A - ZNF41_000028 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.1652A>G VUS r.(?) p.(Tyr551Cys) g.47307517T>C - ZNF41(NM_007130.2):c.1652A>G (p.(Tyr551Cys)) - ZNF41_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1736A>G VUS r.(?) p.(Tyr579Cys) g.47307433T>C - ZNF41(NM_007130.3):c.1736A>G (p.Y579C) - ZNF41_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1988A>G likely benign r.(?) p.(Asn663Ser) g.47307181T>C - ZNF41(NM_007130.2):c.1988A>G (p.(Asn663Ser)) - ZNF41_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1997C>T benign r.(?) p.(Ala666Val) g.47307172G>A - ZNF41(NM_007130.2):c.1997C>T (p.(Ala666Val)), ZNF41(NM_007130.3):c.1997C>T (p.A666V) - ZNF41_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1997C>T VUS r.(?) p.(Ala666Val) g.47307172G>A - ZNF41(NM_007130.2):c.1997C>T (p.(Ala666Val)), ZNF41(NM_007130.3):c.1997C>T (p.A666V) - ZNF41_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 5 c.1997C>T - r.(?) p.(Ala666Val) g.47307172G>A - A666V - ZNF41_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.2114G>A likely benign r.(?) p.(Arg705His) g.47307055C>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
-?/. - c.2114G>A likely benign r.(?) p.(Arg705His) g.47307055C>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_Leiden
?/. - c.2144G>A VUS r.(?) p.(Gly715Glu) g.47307025C>T - ZNF41(NM_007130.2):c.2144G>A (p.(Gly715Glu)) - ZNF41_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2145A>G likely benign r.(?) p.(=) g.47307024T>C - ZNF41(NM_007130.3):c.2145A>G (p.G715=) - ZNF41_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2215A>T likely benign r.(?) p.(Ile739Leu) g.47306954T>A - ZNF41(NM_007130.3):c.2215A>T (p.I739L) - ZNF41_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2259G>A likely benign r.(?) p.(=) g.47306910C>T - ZNF41(NM_007130.3):c.2259G>A (p.Q753=) - ZNF41_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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