Unique variants in the CNGA2 gene

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

28 entries on 1 page. Showing entries 1 - 28.
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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     
-/., ?/. 2 - c.44A>C r.(?) p.(Asn15Thr) - benign, VUS g.150906999A>C g.151738527A>C CNGA2(NM_005140.1):c.44A>C (p.N15T, p.(Asn15Thr)) - CNGA2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.61C>A r.(?) p.(Pro21Thr) - VUS g.150907016C>A g.151738544C>A CNGA2(NM_005140.1):c.61C>A (p.P21T) - CNGA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.194G>T r.(?) p.(Gly65Val) - likely benign g.150907342G>T - CNGA2(NM_005140.1):c.194G>T (p.G65V) - CNGA2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.296G>A r.(?) p.(Arg99His) - likely benign g.150908126G>A - CNGA2(NM_005140.1):c.296G>A (p.R99H) - CNGA2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.338G>T r.(?) p.(Gly113Val) - likely benign, VUS g.150908168G>T g.151739696G>T CNGA2(NM_005140.1):c.338G>T (p.(Gly113Val)) - CNGA2_000016 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.394G>T r.(?) p.(Val132Phe) - VUS g.150909285G>T - CNGA2(NM_005140.1):c.394G>T (p.V132F) - CNGA2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.416G>T r.(?) p.(Trp139Leu) - VUS g.150909307G>T g.151740835G>T - - CNGA2_000026 recurrent, found 23 times PubMed: Tarpey 2009 - - Germline - 23/208 cases - - - Lucy Raymond
-?/. 1 - c.451G>A r.(?) p.(Val151Ile) - likely benign g.150909342G>A - CNGA2(NM_005140.1):c.451G>A (p.(Val151Ile)) - CNGA2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.530T>G r.(?) p.(Val177Gly) - VUS g.150911055T>G g.151742583T>G - - CNGA2_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.582G>A r.(=) p.(=) - likely benign g.150911107G>A g.151742635G>A L194L - CNGA2_000027 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - - - Lucy Raymond
-?/. 1 - c.589+3C>T r.spl? p.? - likely benign g.150911117C>T g.151742645C>T CNGA2(NM_005140.1):c.589+3C>T - CNGA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.590-151_590-150insCG r.(=) p.(=) - VUS g.150911414_150911415insCG g.151742942_151742943insCG - - CNGA2_000013 - - - - Germline - - - - - Yu Sun
?/. 1 - c.590-52T>C r.(=) p.(=) - VUS g.150911513T>C g.151743041T>C - - CNGA2_000012 - - - - Germline - - - - - Yu Sun
?/. 1 - c.634C>G r.(?) p.(Arg212Gly) - VUS g.150911609C>G g.151743137C>G - - CNGA2_000028 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.746G>A r.(?) p.(Arg249His) - VUS g.150911721G>A g.151743249G>A CNGA2(NM_005140.1):c.746G>A (p.(Arg249His)) - CNGA2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 7 c.821G>A r.(?) p.(Arg274His) - benign, VUS g.150911796G>A g.151743324G>A CNGA2(NM_005140.1):c.821G>A (p.(Arg274His)) - CNGA2_000010 present in maternal grandfather, VKGL data sharing initiative Nederland PubMed: Bosch 2016, Journal: Bosch 2016 - - CLASSIFICATION record, Germline no - - - - Danielle Bosch, VKGL-NL_Leiden
?/. 1 - c.831C>A r.(?) p.(Asn277Lys) - VUS g.150911806C>A g.151743334C>A CNGA2(NM_005140.1):c.831C>A (p.N277K) - CNGA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.840C>T r.(=) p.(=) - likely benign g.150911815C>T g.151743343C>T L280L - CNGA2_000029 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.913G>A r.(?) p.(Asp305Asn) - VUS g.150911888G>A g.151743416G>A - - CNGA2_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1013T>C r.(?) p.(Ile338Thr) - VUS g.150911988T>C - CNGA2(NM_005140.1):c.1013T>C (p.I338T) - CNGA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1081G>A r.(?) p.(Val361Ile) - likely benign, VUS g.150912056G>A g.151743584G>A CNGA2(NM_005140.1):c.1081G>A (p.(Val361Ile)) - CNGA2_000021 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.1236G>T r.(?) p.(Trp412Cys) - VUS g.150912211G>T g.151743739G>T CNGA2(NM_005140.1):c.1236G>T (p.W412C) - CNGA2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1477A>G r.(?) p.(Ile493Val) - VUS g.150912452A>G g.151743980A>G CNGA2(NM_005140.1):c.1477A>G (p.I493V) - CNGA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1527G>A r.(=) p.(=) - likely benign g.150912502G>A g.151744030G>A Q509Q - CNGA2_000031 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1725G>A r.(?) p.(Arg575=) - likely benign g.150912700G>A g.151744228G>A CNGA2(NM_005140.1):c.1725G>A (p.R575=) - CNGA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1849C>A r.(?) p.(Arg617Ser) - VUS g.150912824C>A g.151744352C>A CNGA2(NM_005140.1):c.1849C>A (p.(Arg617Ser)) - CNGA2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1874C>G r.(?) p.(Ala625Gly) - VUS g.150912849C>G g.151744377C>G CNGA2(NM_005140.1):c.1874C>G (p.A625G) - CNGA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1987G>A r.(?) p.(Glu663Lys) - VUS g.150912962G>A g.151744490G>A - - CNGA2_000032 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - - - Lucy Raymond
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