Unique variants in gene CNGA2

Information The variants shown are described using the NM_005140.1 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Reported     

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     
?/., -/. 2 - c.44A>C VUS, benign r.(?) p.(Asn15Thr) g.150906999A>C - CNGA2(NM_005140.1):c.44A>C (p.(Asn15Thr)) - CNGA2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.61C>A VUS r.(?) p.(Pro21Thr) g.150907016C>A - CNGA2(NM_005140.1):c.61C>A (p.P21T) - CNGA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 2 - c.338G>T likely benign r.(?) p.(Gly113Val) g.150908168G>T - CNGA2(NM_005140.1):c.338G>T (p.(Gly113Val)) - CNGA2_000016 VKGL data sharing initiative Nederland, recurrent, found 2 times PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - VKGL-NL, Lucy Raymond
?/. 1 - c.416G>T - r.(?) p.(Trp139Leu) g.150909307G>T - - - CNGA2_000026 recurrent, found 23 times PubMed: Tarpey 2009 - - Germline - 23/208 cases - - - Lucy Raymond
-?/. 1 - c.483-4G>A likely benign r.spl? p.? g.150911004G>A - CNGA2(NM_005140.1):c.483-4G>A (p.?) - CNGA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.530T>G - - p.(Val177Gly) g.150911055T>G g.151742583T>G - - CNGA2_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.582G>A - r.(=) p.(=) g.150911107G>A - L194L - CNGA2_000027 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - - - Lucy Raymond
-?/. 1 - c.589+3C>T likely benign r.spl? p.? g.150911117C>T - CNGA2(NM_005140.1):c.589+3C>T - CNGA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.590-152_590-151insGC - - p.(=) g.150911413_150911414insGC g.151742941_151742942insGC - - CNGA2_000013 - - - - Germline - - - - - Yu Sun
?/. 1 - c.590-52T>C - - p.(=) g.150911513T>C g.151743041T>C - - CNGA2_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.634C>G - r.(?) p.(Arg212Gly) g.150911609C>G - - - CNGA2_000028 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.746G>A VUS r.(?) p.(Arg249His) g.150911721G>A - CNGA2(NM_005140.1):c.746G>A (p.(Arg249His)) - CNGA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.766A>G likely benign r.(?) p.(Met256Val) g.150911741A>G - CNGA2(NM_005140.1):c.766A>G (p.(Met256Val)) - CNGA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.785G>A VUS r.(?) p.(Arg262Gln) g.150911760G>A - CNGA2(NM_005140.1):c.785G>A (p.(Arg262Gln)) - CNGA2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 7 c.821G>A VUS r.(?) p.(Arg274His) g.150911796G>A g.151743324G>A CNGA2(NM_005140.1):c.821G>A (p.(Arg274His)) - CNGA2_000010 VKGL data sharing initiative Nederland, present in maternal grandfather PubMed: Bosch 2016, Journal: Bosch 2016 - - CLASSIFICATION record, Germline no - - - - VKGL-NL, Danielle Bosch
?/. 1 - c.831C>A VUS r.(?) p.(Asn277Lys) g.150911806C>A - CNGA2(NM_005140.1):c.831C>A (p.N277K) - CNGA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.840C>T - r.(=) p.(=) g.150911815C>T - L280L - CNGA2_000029 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 2 - c.913G>A VUS r.(?) p.(Asp305Asn) g.150911888G>A - CNGA2(NM_005140.1):c.913G>A (p.(Asp305Asn)) - CNGA2_000030 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - Germline, CLASSIFICATION record - 1/208 cases - - - Lucy Raymond, VKGL-NL
-?/., ?/. 2 - c.1081G>A likely benign r.(?) p.(Val361Ile) g.150912056G>A - CNGA2(NM_005140.1):c.1081G>A (p.(Val361Ile)) - CNGA2_000021 VKGL data sharing initiative Nederland, recurrent, found 2 times PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - VKGL-NL, Lucy Raymond
?/. 1 - c.1236G>T VUS r.(?) p.(Trp412Cys) g.150912211G>T - CNGA2(NM_005140.1):c.1236G>T (p.W412C) - CNGA2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1477A>G VUS r.(?) p.(Ile493Val) g.150912452A>G - CNGA2(NM_005140.1):c.1477A>G (p.I493V) - CNGA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1527G>A - r.(=) p.(=) g.150912502G>A - Q509Q - CNGA2_000031 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1768G>T likely benign r.(?) p.(Ala590Ser) g.150912743G>T - CNGA2(NM_005140.1):c.1768G>T (p.(Ala590Ser)) - CNGA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1849C>A VUS r.(?) p.(Arg617Ser) g.150912824C>A - CNGA2(NM_005140.1):c.1849C>A (p.(Arg617Ser)) - CNGA2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1874C>G VUS r.(?) p.(Ala625Gly) g.150912849C>G - CNGA2(NM_005140.1):c.1874C>G (p.A625G) - CNGA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1987G>A - r.(?) p.(Glu663Lys) g.150912962G>A - - - CNGA2_000032 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - - - Lucy Raymond
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