All transcript variants in gene RTL1

Information The variants shown are described using the NM_001134888.2 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
+/. _1_ c.0 - r.0 p.0 g.101285914_101451066delinsTTCCCC - 101285913_101451066delinsTTCCCC - MEG3_000002 de novo 165 kb deletion maternal allele PubMed: Beygo 2014 - - De novo yes - - 0 - Johan den Dunnen
-?/. - c.405A>G likely benign r.(?) p.(=) g.101350721T>C - RTL1(NM_001134888.2):c.405A>G (p.(=)) - RTL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1672C>A likely benign r.(?) p.(Pro558Thr) g.101349454G>T - RTL1(NM_001134888.2):c.1672C>A (p.(Pro558Thr), p.P558T) - RTL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1672C>A likely benign r.(?) p.(Pro558Thr) g.101349454G>T - RTL1(NM_001134888.2):c.1672C>A (p.(Pro558Thr), p.P558T) - RTL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2277C>T benign r.(?) p.(=) g.101348849G>A - RTL1(NM_001134888.2):c.2277C>T (p.H759=) - RTL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2554G>A benign r.(?) p.(Ala852Thr) g.101348572C>T - RTL1(NM_001134888.2):c.2554G>A (p.A852T) - RTL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2589G>A likely benign r.(?) p.(=) g.101348537C>T - RTL1(NM_001134888.2):c.2589G>A (p.A863=) - RTL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2857G>T VUS r.(?) p.(Asp953Tyr) g.101348269C>A - RTL1(NM_001134888.2):c.2857G>T (p.D953Y) - MIR433_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2968G>A VUS r.(?) p.(Gly990Ser) g.101348158C>T - RTL1(NM_001134888.2):c.2968G>A (p.(Gly990Ser)) - RTL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3323G>A benign r.(?) p.(Arg1108Gln) g.101347803C>T - RTL1(NM_001134888.2):c.3323G>A (p.(Arg1108Gln), p.R1108Q) - RTL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.3323G>A likely benign r.(?) p.(Arg1108Gln) g.101347803C>T - RTL1(NM_001134888.2):c.3323G>A (p.(Arg1108Gln), p.R1108Q) - RTL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3340C>T likely benign r.(?) p.(Arg1114Trp) g.101347786G>A - RTL1(NM_001134888.2):c.3340C>T (p.R1114W) - RTL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.3451G>A VUS r.(?) p.(Ala1151Thr) g.101347675C>T - RTL1(NM_001134888.2):c.3451G>A (p.(Ala1151Thr)) - RTL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3538T>C VUS r.(?) p.(Ser1180Pro) g.101347588A>G - RTL1(NM_001134888.2):c.3538T>C (p.S1180P) - RTL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3644G>A benign r.(?) p.(Arg1215His) g.101347482C>T - RTL1(NM_001134888.2):c.3644G>A (p.R1215H) - RTL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.3751G>A VUS r.(?) p.(Gly1251Ser) g.101347375C>T - RTL1(NM_001134888.2):c.3751G>A (p.G1251S) - MIR431_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3768G>A likely benign r.(?) p.(=) g.101347358C>T - RTL1(NM_001134888.2):c.3768G>A (p.S1256=) - MIR431_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3771G>A likely benign r.(?) p.(=) g.101347355C>T - RTL1(NM_001134888.2):c.3771G>A (p.(=)) - MIR431_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3827A>C VUS r.(?) p.(His1276Pro) g.101347299T>G - RTL1(NM_001134888.2):c.3827A>C (p.(His1276Pro)) - RTL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3836G>C VUS r.(?) p.(Arg1279Pro) g.101347290C>G - RTL1(NM_001134888.2):c.3836G>C (p.(Arg1279Pro)) - RTL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3842G>C VUS r.(?) p.(Arg1281Pro) g.101347284C>G - RTL1(NM_001134888.2):c.3842G>C (p.(Arg1281Pro)) - RTL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3845A>C VUS r.(?) p.(His1282Pro) g.101347281T>G - RTL1(NM_001134888.2):c.3845A>C (p.(His1282Pro)) - RTL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3848T>C VUS r.(?) p.(Leu1283Pro) g.101347278A>G - RTL1(NM_001134888.2):c.3848T>C (p.(Leu1283Pro)) - RTL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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