All variants in the TAF9B gene

Information The variants shown are described using the NM_015975.4 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.46G>T r.(?) p.(Ala16Ser) - VUS g.77395063C>A g.78139566C>A - - TAF9B_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.46G>T r.(?) p.(Ala16Ser) - likely benign g.77395063C>A g.78139566C>A TAF9B(NM_015975.4):c.46G>T (p.(Ala16Ser)) - TAF9B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.310T>C r.(?) p.(Leu104=) - likely benign g.77393341A>G g.78137844A>G TAF9B(NM_015975.4):c.310T>C (p.L104=) - TAF9B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.479_481+2delinsAA r.spl p.? - likely pathogenic g.77392410_77392414delinsTT g.78136913_78136917delinsTT NG_012570.1:g.7766_7770delinsAA - TAF9B_000007 - PubMed: Fieremans 2016 - - De novo - - - - skewed X-inactivation (7:93 ?) Johan den Dunnen
-?/. - c.513A>G r.(?) p.(=) - likely benign g.77388914T>C - TAF9B(NM_015975.5):c.513A>G (p.(Lys171=)) - TAF9B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.553G>A r.(?) p.(Val185Met) - likely benign g.77388874C>T - TAF9B(NM_015975.4):c.553G>A (p.V185M) - TAF9B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.613C>G r.(?) p.(Gln205Glu) - likely benign g.77387250G>C g.78131753G>C TAF9B(NM_015975.4):c.613C>G (p.(Gln205Glu)) - TAF9B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*427dup r.(=) p.(=) - VUS g.77386692dup g.78131195dup - - TAF9B_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.*5800C>T r.(=) p.(=) - likely benign g.77381307G>A - PGK1(NM_000291.3):c.1234G>A (p.D412N), PGK1(NM_000291.4):c.1234G>A (p.D412N) - PGK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*5800C>T r.(=) p.(=) - likely benign g.77381307G>A - PGK1(NM_000291.3):c.1234G>A (p.D412N), PGK1(NM_000291.4):c.1234G>A (p.D412N) - PGK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.*6206C>T r.(=) p.(=) - VUS g.77380901G>A g.78125404G>A PGK1(NM_000291.3):c.1192G>A (p.A398T) - PGK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*6244G>A r.(=) p.(=) - VUS g.77380863C>T - PGK1(NM_000291.4):c.1154C>T (p.T385M) - PGK1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*6246G>A r.(=) p.(=) - likely benign g.77380861C>T g.78125364C>T PGK1(NM_000291.3):c.1152C>T (p.N384=) - PGK1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*6268G>A r.(=) p.(=) - VUS g.77380839C>T g.78125342C>T - - PGK1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*6286G>A r.(=) p.(=) - VUS g.77380821C>T g.78125324C>T - - PGK1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*6552C>T r.(=) p.(=) - likely benign g.77380555G>A - PGK1(NM_000291.3):c.1114+7G>A - PGK1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*6755dup r.(?) p.(=) - benign g.77380354dup g.78124857dup PGK1(NM_000291.3):c.937-17dupT, PGK1(NM_000291.4):c.937-17dupT - PGK1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.*6755dup r.(?) p.(=) - benign g.77380354dup - PGK1(NM_000291.3):c.937-17dupT, PGK1(NM_000291.4):c.937-17dupT - PGK1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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