Full data view for gene CEP41

Information The variants shown are described using the NM_018718.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-5493152_*9038668del r.0? p.0? Unknown - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.-178C>T r.(?) p.(=) Unknown - benign g.130080985G>A g.130441144G>A CEP41(NR_046443.2):n.-127C>T - CEP41_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5A>C r.(?) p.(=) Unknown - benign g.130080812T>G g.130440971T>G CEP41(NM_018718.2):c.-5A>C, CEP41(NR_046443.2):n.46A>C - CEP41_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5A>C r.(?) p.(=) Unknown - benign g.130080812T>G g.130440971T>G CEP41(NM_018718.2):c.-5A>C, CEP41(NR_046443.2):n.46A>C - CEP41_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5C>T r.(?) p.(Ser2Phe) Unknown - VUS g.130080803G>A g.130440962G>A CEP41(NM_001257158.1):c.5C>T (p.(Ser2Phe)), CEP41(NM_018718.3):c.5C>T (p.S2F) - CEP41_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5C>T r.(?) p.(Ser2Phe) Unknown - VUS g.130080803G>A - CEP41(NM_001257158.1):c.5C>T (p.(Ser2Phe)), CEP41(NM_018718.3):c.5C>T (p.S2F) - CEP41_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5C>T r.(?) p.(Ser2Phe) Both (homozygous) - pathogenic (recessive) g.130080803G>A g.130440962G>A - - CEP41_000012 - PubMed: Sanchez-Navarro 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease RP-2273 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - 1 LOVD
?/. - c.20T>C r.(?) p.(Ile7Thr) Unknown - VUS g.130080788A>G - CEP41(NM_018718.3):c.20T>C (p.(Ile7Thr)) - CEP41_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97+128G>A r.(=) p.(=) Unknown - benign g.130067668C>T g.130427827C>T CEP41(NM_018718.3):c.97+128G>A - CEP41_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.98-5022C>T r.(=) p.(=) Unknown - likely benign g.130061829G>A - CEP41(NM_001257160.1):c.117C>T (p.T39=) - CEP41_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.107T>C r.(?) p.(Met36Thr) Unknown - VUS g.130056798A>G - CEP41(NM_018718.2):c.107T>C (p.M36T), CEP41(NM_018718.3):c.107T>C (p.M36T) - CEP41_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.107T>C r.(?) p.(Met36Thr) Unknown - VUS g.130056798A>G - CEP41(NM_018718.2):c.107T>C (p.M36T), CEP41(NM_018718.3):c.107T>C (p.M36T) - CEP41_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208-5A>G r.spl? p.? Unknown - likely benign g.130051037T>C g.130411196T>C CEP41(NM_018718.2):c.208-5A>G, CEP41(NM_018718.3):c.208-5A>G - CEP41_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.208-5A>G r.spl? p.? Unknown - benign g.130051037T>C g.130411196T>C CEP41(NM_018718.2):c.208-5A>G, CEP41(NM_018718.3):c.208-5A>G - CEP41_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208-5A>G r.spl? p.? Unknown - likely benign g.130051037T>C g.130411196T>C CEP41(NM_018718.2):c.208-5A>G, CEP41(NM_018718.3):c.208-5A>G - CEP41_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278-15A>C r.(=) p.(=) Unknown - likely benign g.130044564T>G - CEP41(NM_018718.3):c.278-15A>C - CEP41_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278-15A>C r.(=) p.(=) Unknown - likely benign g.130044564T>G - CEP41(NM_018718.3):c.278-15A>C - CEP41_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.278-15A>T r.(=) p.(=) Unknown - benign g.130044564T>A g.130404723T>A CEP41(NM_018718.2):c.278-15A>T, CEP41(NM_018718.3):c.278-15A>T - CEP41_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.278-15A>T r.(=) p.(=) Unknown - benign g.130044564T>A g.130404723T>A CEP41(NM_018718.2):c.278-15A>T, CEP41(NM_018718.3):c.278-15A>T - CEP41_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278-15A>T r.(=) p.(=) Unknown - likely benign g.130044564T>A - CEP41(NM_018718.2):c.278-15A>T, CEP41(NM_018718.3):c.278-15A>T - CEP41_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.320C>G r.(?) p.(Ala107Gly) Unknown - benign g.130044507G>C g.130404666G>C CEP41(NM_018718.2):c.320C>G (p.A107G) - CEP41_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422+6C>T r.(=) p.(=) Unknown - likely benign g.130044399G>A g.130404558G>A CEP41(NM_018718.2):c.422+6C>T - CEP41_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422+7G>A r.(=) p.(=) Unknown - likely benign g.130044398C>T - CEP41(NM_018718.3):c.422+7G>A - CEP41_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422+10G>A r.(=) p.(=) Unknown - likely benign g.130044395C>T g.130404554C>T CEP41(NM_018718.2):c.422+10G>A - CEP41_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423-57G>A r.(=) p.(=) Unknown - benign g.130042697C>T g.130402856C>T CEP41(NM_018718.3):c.423-57G>A - CEP41_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.423-8A>G r.(=) p.(=) Unknown - VUS g.130042648T>C g.130402807T>C CEP41(NM_001257158.1):c.423-8A>G (p.(=)) - CEP41_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.423-2A>G r.spl? p.? Unknown - VUS g.130042642T>C g.130402801T>C CEP41(NM_001257158.1):c.423-2A>G (p.?), CEP41(NM_018718.2):c.423-2A>G - CEP41_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.423-2A>G r.spl? p.? Unknown - VUS g.130042642T>C - CEP41(NM_001257158.1):c.423-2A>G (p.?), CEP41(NM_018718.2):c.423-2A>G - CEP41_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505C>G r.(?) p.(Pro169Ala) Unknown - VUS g.130042558G>C - CEP41(NM_018718.3):c.505C>G (p.(Pro169Ala)) - CEP41_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530A>T r.(?) p.(Asp177Val) Unknown - VUS g.130042533T>A g.130402692T>A - - CEP41_000029 - PubMed: Kroes 2016 - - Germline - - - - - DNA SEQ-NG-S blood - JBTS1 2-51 Pat3 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
-?/. - c.574+16C>T r.(=) p.(=) Unknown - likely benign g.130042473G>A g.130402632G>A CEP41(NM_018718.3):c.574+16C>T - CEP41_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.575-14del r.(=) p.(=) Unknown - benign g.130041807del g.130401966del CEP41(NM_018718.2):c.575-14delT, CEP41(NM_018718.3):c.575-14delT - CEP41_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.575-14del r.(=) p.(=) Unknown - likely benign g.130041807del g.130401966del CEP41(NM_018718.2):c.575-14delT, CEP41(NM_018718.3):c.575-14delT - CEP41_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.616C>G r.(?) p.(Pro206Ala) Unknown - benign g.130041748G>C g.130401907G>C CEP41(NM_018718.2):c.616C>G (p.P206A), CEP41(NM_018718.3):c.616C>G (p.P206A) - CEP41_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616C>G r.(?) p.(Pro206Ala) Unknown - likely benign g.130041748G>C g.130401907G>C CEP41(NM_018718.2):c.616C>G (p.P206A), CEP41(NM_018718.3):c.616C>G (p.P206A) - CEP41_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.616C>G r.(?) p.(Pro206Ala) Parent #1 - VUS g.130041748G>C g.130401907G>C - - CEP41_000004 conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143303575 Germline - 14/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
-?/. - c.616C>G r.(?) p.(Pro206Ala) Unknown - likely benign g.130041748G>C - CEP41(NM_018718.2):c.616C>G (p.P206A), CEP41(NM_018718.3):c.616C>G (p.P206A) - CEP41_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.632T>C r.(?) p.(Ile211Thr) Unknown - VUS g.130041732A>G - CEP41(NM_018718.3):c.632T>C (p.I211T) - CEP41_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.642+84A>G r.(=) p.(=) Unknown - benign g.130041638T>C g.130401797T>C CEP41(NM_018718.3):c.642+84A>G - CEP41_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647A>C r.(?) p.(Asn216Thr) Unknown - VUS g.130040658T>G - CEP41(NM_018718.3):c.647A>C (p.(Asn216Thr)) - CEP41_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716T>C r.(?) p.(Met239Thr) Unknown - VUS g.130040589A>G g.130400748A>G CEP41(NM_018718.2):c.716T>C (p.M239T) - CEP41_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.718T>G r.(?) p.(Cys240Gly) Unknown - benign g.130040587A>C g.130400746A>C CEP41(NM_018718.2):c.718T>G (p.C240G), CEP41(NM_018718.3):c.718T>G (p.C240G) - CEP41_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.718T>G r.(?) p.(Cys240Gly) Unknown - benign g.130040587A>C - CEP41(NM_018718.2):c.718T>G (p.C240G), CEP41(NM_018718.3):c.718T>G (p.C240G) - CEP41_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754G>A r.(?) p.(Gly252Arg) Parent #1 - VUS g.130040551C>T g.130400710C>T - - CEP41_000026 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201834429 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.754G>A r.(?) p.(Gly252Arg) Unknown - VUS g.130040551C>T g.130400710C>T CEP41(NM_018718.2):c.754G>A (p.G252R) - CEP41_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.757+16C>T r.(=) p.(=) Unknown - likely benign g.130040532G>A g.130400691G>A CEP41(NM_018718.3):c.757+16C>T - CEP41_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786G>A r.(?) p.(Pro262=) Unknown - likely benign g.130040067C>T g.130400226C>T CEP41(NM_018718.2):c.786G>A (p.P262=) - CEP41_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850C>T r.(?) p.(Arg284Trp) Unknown - VUS g.130040003G>A - CEP41(NM_018718.2):c.850C>T (p.R284W) - CEP41_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1004G>A r.(?) p.(Arg335Lys) Unknown - likely benign g.130038850C>T - CEP41(NM_018718.2):c.1004G>A (p.R335K), CEP41(NM_018718.3):c.1004G>A (p.R335K) - CEP41_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1004G>A r.(?) p.(Arg335Lys) Unknown - VUS g.130038850C>T - CEP41(NM_018718.2):c.1004G>A (p.R335K), CEP41(NM_018718.3):c.1004G>A (p.R335K) - CEP41_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1009T>C r.(?) p.(Ser337Pro) Unknown - VUS g.130038845A>G g.130399004A>G CEP41(NM_018718.2):c.1009T>C (p.S337P), CEP41(NM_018718.3):c.1009T>C (p.S337P) - CEP41_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1009T>C r.(?) p.(Ser337Pro) Unknown - likely benign g.130038845A>G - CEP41(NM_018718.2):c.1009T>C (p.S337P), CEP41(NM_018718.3):c.1009T>C (p.S337P) - CEP41_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1032C>T r.(?) p.(Ser344=) Unknown - likely benign g.130038822G>A - CEP41(NM_018718.2):c.1032C>T (p.S344=) - CEP41_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033G>A r.(?) p.(Ala345Thr) Unknown - likely benign g.130038821C>T g.130398980C>T CEP41(NM_018718.2):c.1033G>A (p.A345T) - CEP41_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1116G>A r.(?) p.(Trp372Ter) Unknown - VUS g.130038738C>T g.130398897C>T CEP41(NM_018718.3):c.1116G>A (p.W372*) - CEP41_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*805A>G r.(=) p.(=) Parent #1 - VUS g.130037927T>C g.130398086T>C - - CEP41_000025 7 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145808545 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
?/. - c.*805A>G r.(=) p.(=) Both (homozygous) - VUS g.130037927T>C g.130398086T>C - - CEP41_000025 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145808545 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
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