All variants in the HNRNPR gene

Information The variants shown are described using the NM_005826.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

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     
?/. - c.53C>A r.(?) p.(Pro18Gln) - VUS g.23667449G>T - HNRNPR(NM_001102398.3):c.53C>A (p.P18Q) - HNRNPR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.148T>C r.(?) p.(Phe50Leu) - likely benign g.23667354A>G g.23340861A>G HNRNPR(NM_001102398.2):c.148T>C (p.F50L) - HNRNPR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.160T>C r.(?) p.(=) - likely benign g.23665099A>G - HNRNPR(NM_001102397.3):c.-144T>C - HNRNPR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.276+6G>A r.(=) p.(=) - likely benign g.23664977C>T - HNRNPR(NM_005826.5):c.276+6G>A - HNRNPR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.498+4878G>A r.(=) p.(=) - likely benign g.23655133C>T - HNRNPR(NM_005826.5):c.498+4878G>A - HNRNPR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.675+519C>T r.(=) p.(=) - likely benign g.23649530G>A - HNRNPR(NM_005826.5):c.675+519C>T - HNRNPR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1113G>A r.(?) p.(Lys371=) - likely benign g.23640100C>T - HNRNPR(NM_001102398.3):c.1122G>A (p.K374=) - HNRNPR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1370G>T r.(?) p.(Gly457Val) - likely benign g.23637479C>A - HNRNPR(NM_001102397.1):c.1067G>T (p.(Gly356Val)) - HNRNPR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1581dup r.(?) p.(Gly528TrpfsTer16) - VUS g.23637268dup g.23310775dup HNRNPR(NM_001102397.1):c.1278_1279insT (p.?) - HNRNPR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1588T>A r.(?) p.(Ser530Thr) - VUS g.23637261A>T - HNRNPR(NM_005826.3):c.1588T>A (p.(Ser530Thr)) - HNRNPR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1600dup r.(?) p.(Ala534Glyfs*10) - pathogenic (dominant) g.23637254dup g.23310761dup NM_001102398.1:c.1609dupG - HNRNPR_000002 - PubMed: Duijkers 2019, Journal: Duijkers 2019 - - De novo - - - - - Johan den Dunnen
+/. - c.1643dup r.(?) p.(Pro549Serfs*34) - pathogenic (dominant) g.23637210dup g.23310717dup NM_001102398.1:c.1652dupG - HNRNPR_000003 - PubMed: Duijkers 2019, Journal: Duijkers 2019 - - De novo - - - - - Johan den Dunnen
+/. - c.1643dup r.(?) p.(Pro549Serfs*34) - pathogenic (dominant) g.23637210dup g.23310717dup NM_001102398.1:c.1652dupG - HNRNPR_000003 - PubMed: Duijkers 2019, Journal: Duijkers 2019 - - De novo - - - - - Johan den Dunnen
+?/. - c.1643dup r.(?) p.(Pro549SerfsTer34) - likely pathogenic g.23637210dup - HNRNPR(NM_001102398.3):c.1652dupG (p.P552Sfs*34) - HNRNPR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 5 c.1654C>T r.(?) p.(Gln552*) ACMG likely pathogenic (recessive) g.23637195G>A g.23310702G>A NM_001102398.1:c.1663C>T - HNRNPR_000005 - PubMed: Helbig 2016, PubMed: Duijkers 2019, Journal: Duijkers 2019 - - De novo - - - - - Johan den Dunnen
+/. - c.1754G>A r.(?) p.(Arg585His) - pathogenic (dominant) g.23637095C>T g.23310602C>T NM_001102398.1:c.1763G>A - HNRNPR_000004 - PubMed: Duijkers 2019, Journal: Duijkers 2019 - - De novo - - - - - Johan den Dunnen
?/. - c.1873C>G r.(?) p.(Gln625Glu) - VUS g.23636976G>C - HNRNPR(NM_005826.3):c.1873C>G (p.(Gln625Glu)) - HNRNPR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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