All transcript variants in gene XPR1

Information The variants shown are described using the NM_004736.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

AscendingDNA change (cDNA)     

Exon     

Protein     

DNA change (genomic) (hg19)     

gnomAD MAF     

dbSNP ID     

Segregation     

Zygosity     

ACMG class     

Reference     

DB-ID     

Owner     
./. c.260T>C 4 p.(Leu87Pro) g.180772560T>C - - - - Likely Pathogenic [Anheim,2016] XPR1_000005 Coppola Lab UCLA (EMR)
./. c.407G>A 4 p.(Ser136Asn) g.180772707G>A - - ? - Likely Pathogenic [Legati, 2015] XPR1_000001 Coppola Lab UCLA (EMR)
./. c.419T>C 4 p.(Leu140Pro) g.180772719T>C - - ? - Likely Pathogenic [Legati, 2015] XPR1_000002 Coppola Lab UCLA (EMR)
./. c.434T>C 4 p.(Leu145Pro) g.180772734T>C - - yes - Pathogenic [Legati,2015] XPR1_000003 Coppola Lab UCLA (EMR)
./. c.434T>C 4 p.(Leu145Pro) g.180772734T>C - - - - Pathogenic [Ramos, 2018] XPR1_000003 Coppola Lab UCLA (EMR)
+/. c.490G>T 5 p.(Asp164Tyr) g.180775240G>T - - - - Likely Pathogenic [Guo, 2019] XPR1_000009 Coppola Lab UCLA (EMR)
./. c.653T>C 6 p.(Leu218Ser) g.180775665T>C - - ? - Likely Pathogenic [Legati,2015] XPR1_000004 Coppola Lab UCLA (EMR)
./. c.697A>T 7 p.(Thr233Ser) g.180780558A>T - - - - Likely Pathogenic [Ramos, 2018] XPR1_000006 Coppola Lab UCLA (EMR)
?/? c.786_789delTAGA 8 p.(Asp262Glufs*6) g.180793911_180793914delTAGA - - - Compound Heterozygous Likely Pathogenic [Tang,2021] XPR1_000013 Coppola Lab UCLA (EMR)
?/? c.1342C>T 11 p.(Arg448Trp) g.180805693C>T 0.000007954 rs751223491 - Compound Heterozygous Uncertain significance [Tang,2021] XPR1_000014 Coppola Lab UCLA (EMR)
+/. c.1375C>T 11 p.(Arg459Cys) g.180805726C>T - - - - Pathogenic [Ramos, 2018] XPR1_000007 Coppola Lab UCLA (EMR)
+/. c.1708C>T 13 p.(Arg570Cys) g.180842978C>T - - - - Likely Pathogenic [Guo, 2019] XPR1_000010 Coppola Lab UCLA (EMR)
+?/. c.1855A>G 14 p.(Asn619Asp) g.180849258A>G - - - - Likely Pathogenic [Ramos, 2018] XPR1_000008 Coppola Lab UCLA (EMR)
+/. c.1886T>G 14 p.(Ile629Ser) g.180849289T>G - - - - Pathogenic [López-Sánchez, 2019] XPR1_000012 Coppola Lab UCLA (EMR)
?/. c.2018G>A 14 p.(Arg673His) g.180849421G>A 0.000063650 rs368909346 - - Uncertain significance [Chen, 2019b] XPR1_000011 Coppola Lab UCLA (EMR)
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