Unique variants in the CEP41 gene

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

31 entries on 1 page. Showing entries 1 - 31.
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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.-5493152_*9038668del r.0? p.0? - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-/. 1 - c.-178C>T r.(?) p.(=) - benign g.130080985G>A g.130441144G>A CEP41(NR_046443.2):n.-127C>T - CEP41_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.-5A>C r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/., ?/. 3 - c.5C>T r.(?) p.(Ser2Phe) - pathogenic (recessive), VUS g.130080803G>A g.130440962G>A CEP41(NM_001257158.1):c.5C>T (p.(Ser2Phe)), CEP41(NM_018718.2):c.5C>T (p.S2F) - CEP41_000012 VKGL data sharing initiative Nederland PubMed: Sanchez-Navarro 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-/. 1 - c.97+128G>A r.(=) p.(=) - benign g.130067668C>T g.130427827C>T CEP41(NM_018718.3):c.97+128G>A - CEP41_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.98-5022C>T r.(=) p.(=) - likely benign g.130061829G>A - CEP41(NM_001257160.1):c.117C>T (p.T39=) - CEP41_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.107T>C r.(?) p.(Met36Thr) - VUS g.130056798A>G - CEP41(NM_018718.2):c.107T>C (p.M36T) - CEP41_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.208-5A>G r.spl? p.? - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 2 - c.278-15A>T r.(=) p.(=) - benign g.130044564T>A g.130404723T>A CEP41(NM_018718.2):c.278-15A>T - CEP41_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.320C>G r.(?) p.(Ala107Gly) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.422+6C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.422+10G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.423-57G>A r.(=) p.(=) - benign g.130042697C>T g.130402856C>T CEP41(NM_018718.3):c.423-57G>A - CEP41_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.423-8A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 2 - c.423-2A>G r.spl? p.? - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.530A>T r.(?) p.(Asp177Val) - VUS g.130042533T>A g.130402692T>A - - CEP41_000029 - PubMed: Kroes 2016 - - Germline - - - - - LOVD
-?/. 1 - c.574+16C>T r.(=) p.(=) - likely benign g.130042473G>A g.130402632G>A CEP41(NM_018718.2):c.574+16C>T - CEP41_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.575-14del r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/., ?/. 4 - c.616C>G r.(?) p.(Pro206Ala) - benign, likely benign, VUS 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 conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs143303575 CLASSIFICATION record, Germline - 14/2791 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.632T>C r.(?) p.(Ile211Thr) - VUS g.130041732A>G - CEP41(NM_018718.3):c.632T>C (p.I211T) - CEP41_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.642+84A>G r.(=) p.(=) - benign g.130041638T>C g.130401797T>C CEP41(NM_018718.3):c.642+84A>G - CEP41_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.716T>C r.(?) p.(Met239Thr) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.718T>G r.(?) p.(Cys240Gly) - benign g.130040587A>C g.130400746A>C CEP41(NM_018718.2):c.718T>G (p.C240G) - CEP41_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.754G>A r.(?) p.(Gly252Arg) - VUS g.130040551C>T g.130400710C>T CEP41(NM_018718.2):c.754G>A (p.G252R) - CEP41_000026 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs201834429 CLASSIFICATION record, Germline - 2/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.757+16C>T r.(=) p.(=) - likely benign g.130040532G>A g.130400691G>A CEP41(NM_018718.2):c.757+16C>T - CEP41_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.786G>A r.(?) p.(Pro262=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.850C>T r.(?) p.(Arg284Trp) - VUS g.130040003G>A - CEP41(NM_018718.2):c.850C>T (p.R284W) - CEP41_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1009T>C r.(?) p.(Ser337Pro) - VUS g.130038845A>G g.130399004A>G CEP41(NM_018718.2):c.1009T>C (p.S337P) - CEP41_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1033G>A r.(?) p.(Ala345Thr) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1116G>A r.(?) p.(Trp372Ter) - 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 - - - - - VKGL-NL_Groningen
?/. 2 - c.*805A>G r.(=) p.(=) - VUS g.130037927T>C g.130398086T>C - - CEP41_000025 1 homozygous; Clinindb (India), 7 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145808545 Germline - 1/2795 individuals, 7/2795 individuals - - - Mohammed Faruq
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