All variants in the DNAAF2 gene

Information The variants shown are described using the NM_001083908.1 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.78C>T r.(?) p.(Ala26=) - likely benign g.50101790G>A g.49635072G>A DNAAF2(NM_018139.2):c.78C>T (p.A26=) - DNAAF2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.144C>A r.(?) p.(Asn48Lys) - VUS g.50101724G>T g.49635006G>T DNAAF2(NM_018139.2):c.144C>A (p.N48K) - DNAAF2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.178G>T r.(?) p.(Glu60*) - pathogenic g.50101690C>A - DNAAF2(NM_018139.3):c.178G>T (p.E60*) - DNAAF2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.186G>C r.(?) p.(Glu62Asp) - benign g.50101682C>G g.49634964C>G DNAAF2(NM_018139.2):c.186G>C (p.E62D), DNAAF2(NM_018139.3):c.186G>C (p.E62D) - DNAAF2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.186G>C r.(?) p.(Glu62Asp) - benign g.50101682C>G g.49634964C>G DNAAF2(NM_018139.2):c.186G>C (p.E62D), DNAAF2(NM_018139.3):c.186G>C (p.E62D) - DNAAF2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.332G>C r.(?) p.(Arg111Pro) - likely benign g.50101536C>G g.49634818C>G DNAAF2(NM_018139.2):c.332G>C (p.R111P) - DNAAF2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.357G>A r.(?) p.(Trp119*) - pathogenic g.50101511C>T - DNAAF2(NM_018139.3):c.357G>A (p.W119*) - DNAAF2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.498C>T r.(?) p.(Ala166=) - benign g.50101370G>A g.49634652G>A DNAAF2(NM_018139.2):c.498C>T (p.A166=), DNAAF2(NM_018139.3):c.498C>T (p.A166=) - DNAAF2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.498C>T r.(?) p.(Ala166=) - benign g.50101370G>A g.49634652G>A DNAAF2(NM_018139.2):c.498C>T (p.A166=), DNAAF2(NM_018139.3):c.498C>T (p.A166=) - DNAAF2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.561C>T r.(?) p.(Thr187=) - likely benign g.50101307G>A g.49634589G>A DNAAF2(NM_018139.2):c.561C>T (p.T187=) - DNAAF2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.579G>A r.(?) p.(Lys193=) - likely benign g.50101289C>T g.49634571C>T DNAAF2(NM_018139.2):c.579G>A (p.K193=) - DNAAF2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.646G>T r.(?) p.(Glu216*) - pathogenic g.50101222C>A - DNAAF2(NM_018139.3):c.646G>T (p.E216*) - DNAAF2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.698C>A r.(?) p.(Ala233Asp) - VUS g.50101170G>T g.49634452G>T DNAAF2(NM_018139.2):c.698C>A (p.A233D) - DNAAF2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.707C>T r.(?) p.(Pro236Leu) - likely benign g.50101161G>A g.49634443G>A DNAAF2(NM_018139.2):c.707C>T (p.P236L, p.(Pro236Leu)) - DNAAF2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.707C>T r.(?) p.(Pro236Leu) - likely benign g.50101161G>A - DNAAF2(NM_018139.2):c.707C>T (p.P236L, p.(Pro236Leu)) - DNAAF2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.728A>C r.(?) p.(Glu243Ala) - VUS g.50101140T>G g.49634422T>G DNAAF2(NM_018139.2):c.728A>C (p.E243A) - DNAAF2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.827C>G r.(?) p.(Pro276Arg) - likely benign g.50101041G>C g.49634323G>C - - DNAAF2_000035 - PubMed: Alsamri 2021 - rs562712293 Germline - - - - - Johan den Dunnen
?/. - c.1072G>C r.(?) p.(Ala358Pro) - VUS g.50100796C>G g.49634078C>G DNAAF2(NM_018139.2):c.1072G>C (p.A358P) - DNAAF2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1082T>C r.(?) p.(Val361Ala) - VUS g.50100786A>G - DNAAF2(NM_018139.2):c.1082T>C (p.V361A) - DNAAF2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1185G>C r.(?) p.(Ala395=) - benign g.50100683C>G g.49633965C>G DNAAF2(NM_018139.2):c.1185G>C (p.A395=), DNAAF2(NM_018139.3):c.1185G>C (p.A395=) - DNAAF2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1185G>C r.(?) p.(Ala395=) - benign g.50100683C>G g.49633965C>G DNAAF2(NM_018139.2):c.1185G>C (p.A395=), DNAAF2(NM_018139.3):c.1185G>C (p.A395=) - DNAAF2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1405T>A r.(?) p.(Cys469Ser) - likely benign g.50100463A>T g.49633745A>T DNAAF2(NM_018139.2):c.1405T>A (p.C469S) - DNAAF2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1406G>A r.(?) p.(Cys469Tyr) - likely benign g.50100462C>T - DNAAF2(NM_018139.3):c.1406G>A (p.(Cys469Tyr)) - DNAAF2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1482A>G r.(?) p.(Thr494=) - benign g.50100386T>C g.49633668T>C DNAAF2(NM_018139.2):c.1482A>G (p.T494=), DNAAF2(NM_018139.3):c.1482A>G (p.T494=) - DNAAF2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1482A>G r.(?) p.(Thr494=) - benign g.50100386T>C g.49633668T>C DNAAF2(NM_018139.2):c.1482A>G (p.T494=), DNAAF2(NM_018139.3):c.1482A>G (p.T494=) - DNAAF2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1494G>A r.(?) p.(Ser498=) - likely benign g.50100374C>T g.49633656C>T DNAAF2(NM_018139.2):c.1494G>A (p.S498=) - DNAAF2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1626G>C r.(?) p.(Arg542=) - likely benign g.50100242C>G g.49633524C>G DNAAF2(NM_018139.2):c.1626G>C (p.R542=) - DNAAF2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1674A>G r.(?) p.(Lys558=) - likely benign g.50100194T>C g.49633476T>C DNAAF2(NM_018139.2):c.1674A>G (p.K558=) - DNAAF2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1785G>A r.(?) p.(Val595=) - likely benign g.50100083C>T - DNAAF2(NM_018139.2):c.1785G>A (p.V595=) - DNAAF2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1802C>G r.(?) p.(Ser601Cys) - VUS g.50100066G>C - DNAAF2(NM_018139.2):c.1802C>G (p.S601C) - DNAAF2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1863+16A>G r.(=) p.(=) - benign g.50099989T>C g.49633271T>C DNAAF2(NM_018139.2):c.1863+16A>G - DNAAF2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1864-2018A>G r.(=) p.(=) - likely benign g.50094784T>C g.49628066T>C DNAAF2(NM_018139.2):c.1953A>G (p.P651=) - DNAAF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1864-2002C>T r.(=) p.(=) - VUS g.50094768G>A g.49628050G>A - - DNAAF2_000028 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs187863107 Germline - 1/2795 individuals - - - Mohammed Faruq
-/. - c.2159A>G r.(?) p.(Asp720Gly) - benign g.50092471T>C g.49625753T>C DNAAF2(NM_018139.2):c.2303A>G (p.D768G), DNAAF2(NM_018139.3):c.2303A>G (p.D768G) - DNAAF2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2159A>G r.(?) p.(Asp720Gly) - benign g.50092471T>C g.49625753T>C DNAAF2(NM_018139.2):c.2303A>G (p.D768G), DNAAF2(NM_018139.3):c.2303A>G (p.D768G) - DNAAF2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2163_2167del r.(?) p.(Asn721LysfsTer7) - likely pathogenic g.50092466_50092470del g.49625748_49625752del DNAAF2(NM_001083908.1):c.2163_2167del (p.(Asn721LysfsTer7)) - DNAAF2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*2980C>G r.(=) p.(=) - VUS g.50089280G>C - MGAT2(NM_002408.4):c.1294G>C (p.(Gly432Arg)) - DNAAF2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*3160T>G r.(=) p.(=) - VUS g.50089100A>C g.49622382A>C MGAT2(NM_002408.3):c.1114A>C (p.(Ile372Leu)) - MGAT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.*3563C>G r.(=) p.(=) - likely pathogenic g.50088697G>C g.49621979G>C - - MGAT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*3597T>G r.(=) p.(=) - VUS g.50088663A>C g.49621945A>C MGAT2(NM_002408.3):c.677A>C (p.K226T) - MGAT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3791A>C r.(=) p.(=) - VUS g.50088469T>G - MGAT2(NM_002408.4):c.483T>G (p.(Asn161Lys)) - DNAAF2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*4207C>T r.(=) p.(=) - likely benign g.50088053G>A g.49621335G>A MGAT2(NM_002408.3):c.67G>A (p.(Val23Ile)) - MGAT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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