All variants in the HNRNPA1 gene

Information The variants shown are described using the NM_031157.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.16-57G>A r.(=) p.(=) - VUS g.54675113G>A g.54281329G>A - - HNRNPA1_000003 - - - - Germline - - - - - Yu Sun
-?/. - c.16-15C>T r.(=) p.(=) - likely benign g.54675155C>T g.54281371C>T HNRNPA1(NM_031157.3):c.16-15C>T - HNRNPA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.133-17A>G r.(=) p.(=) - likely benign g.54675562A>G g.54281778A>G HNRNPA1(NM_031157.3):c.133-17A>G - HNRNPA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.279+27_279+29del r.(=) p.(=) - likely benign g.54675752_54675754del g.54281968_54281970del HNRNPA1(NM_031157.3):c.279+27_279+29delCTT, HNRNPA1(NM_031157.3):c.279+27_279+29delTTC - HNRNPA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.279+27_279+29del r.(=) p.(=) - likely benign g.54675752_54675754del g.54281968_54281970del HNRNPA1(NM_031157.3):c.279+27_279+29delCTT, HNRNPA1(NM_031157.3):c.279+27_279+29delTTC - HNRNPA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.491-3dup r.spl? p.? - likely benign g.54676175dup g.54282391dup HNRNPA1(NM_031157.3):c.491-3dupT - HNRNPA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.491-3dup r.spl? p.? - likely benign g.54676175dup g.54282391dup HNRNPA1(NM_031157.3):c.491-3dupT - HNRNPA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.546A>G r.(?) p.(Ser182=) - likely benign g.54676233A>G g.54282449A>G HNRNPA1(NM_031157.3):c.546A>G (p.S182=) - HNRNPA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.546A>G r.(?) p.(Ser182=) - likely benign g.54676233A>G - HNRNPA1(NM_031157.3):c.546A>G (p.S182=) - HNRNPA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.584-10A>G r.(=) p.(=) - likely benign g.54676347A>G - HNRNPA1(NM_031157.3):c.584-10A>G - HNRNPA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.631G>A r.(?) p.(Gly211Ser) - VUS g.54676404G>A g.54282620G>A HNRNPA1(NM_031157.3):c.631G>A (p.G211S) - HNRNPA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.631G>A r.(?) p.(Gly211Ser) - likely benign g.54676404G>A g.54282620G>A HNRNPA1(NM_031157.3):c.631G>A (p.G211S) - HNRNPA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.639T>C r.(?) p.(Asn213=) - likely benign g.54676412T>C g.54282628T>C HNRNPA1(NM_031157.3):c.639T>C (p.N213=) - HNRNPA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.703G>A r.(?) p.(Gly235Ser) - VUS g.54676610G>A g.54282826G>A HNRNPA1(NM_031157.3):c.703G>A (p.G235S) - HNRNPA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.885_890del r.(?) p.(Gly296_Gly297del) - benign g.54676996_54677001del - HNRNPA1(NM_031157.3):c.885_890delAGGCGG (p.G296_G297del) - HNRNPA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.897C>T r.(?) p.(Gly299=) - likely benign g.54677008C>T g.54283224C>T HNRNPA1(NM_031157.3):c.897C>T (p.G299=) - HNRNPA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.908-3T>C r.spl? p.? - likely benign g.54677593T>C g.54283809T>C HNRNPA1(NM_031157.3):c.908-3T>C - HNRNPA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.998T>G r.(?) p.(Phe333Cys) - likely benign g.54677686T>G g.54283902T>G HNRNPA1(NM_031157.3):c.998T>G (p.F333C) - HNRNPA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1064-62C>T r.(=) p.(=) - VUS g.54677980C>T g.54284196C>T - - HNRNPA1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1064-62C>T r.(=) p.(=) - VUS g.54677980C>T g.54284196C>T - - HNRNPA1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1075G>A r.(?) p.Gly359Ser ACMG VUS g.54678053G>A g.54284269G>A - - HNRNPA1_000010 - - - rs778636234 Germline - - - 0 - Andreas Laner
+?/. - c.1118A>C r.(?) p.(*373Serext*6) - likely pathogenic g.54678096A>C g.54284312A>C - - HNRNPA1_000019 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
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