Unique variants in the ANKH gene

Information The variants shown are described using the NM_054027.4 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Reported     

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     
./. 1 - c.-1065890_*3737893del r.0? p.0? - pathogenic g.10973413_15937446del - - - CTNND2_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.-4G>A r.(?) p.(=) - VUS g.14871560C>T g.14871451C>T - - ANKH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.14C>T r.(?) p.(Pro5Leu) - pathogenic g.14871543G>A g.14871434G>A - - ANKH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.25C>T r.(?) p.(His9Tyr) - VUS g.14871532G>A g.14871423G>A ANKH(NM_054027.4):c.25C>T (p.(His9Tyr)) - ANKH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.97-29295A>G r.(=) p.(=) - VUS g.14798595T>C g.14798486T>C - - ANKH_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.97-29287C>T r.(=) p.(=) - VUS g.14798587G>A g.14798478G>A - - ANKH_000003 - - - - Germline - - - - - Yu Sun
-/. 1 - c.294C>T r.(?) p.(Ala98=) - benign g.14769103G>A g.14768994G>A ANKH(NM_054027.6):c.294C>T (p.A98=) - ANKH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.313+9G>C r.(=) p.(=) - likely benign g.14769075C>G g.14768966C>G ANKH(NM_054027.6):c.313+9G>C - ANKH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.433G>T r.(?) p.(Ala145Ser) - VUS g.14756053C>A g.14755944C>A ANKH(NM_054027.4):c.433G>T (p.(Ala145Ser)) - ANKH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.655A>G r.(?) p.(Ile219Val) - VUS g.14751210T>C g.14751101T>C ANKH(NM_054027.4):c.655A>G (p.(Ile219Val)) - ANKH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 14 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - - - Jirko Kühnisch
?/. 1 - c.749C>T r.(?) p.(Thr250Ile) - VUS g.14749354G>A - ANKH(NM_054027.6):c.749C>T (p.T250I) - ANKH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.967C>A r.(?) p.(His323Asn) - VUS g.14741980G>T g.14741871G>T ANKH(NM_054027.4):c.967C>A (p.(His323Asn)) - ANKH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.982A>G r.(?) p.(Thr328Ala) - VUS g.14741965T>C g.14741856T>C ANKH(NM_054027.6):c.982A>G (p.T328A) - ANKH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1011+15T>G r.(=) p.(=) - benign g.14741921A>C g.14741812A>C - - ANKH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 2 - c.1015T>C r.(?) p.(Cys339Arg) - likely pathogenic, VUS g.14716941A>G g.14716832A>G ANKH(NM_054027.4):c.1015T>C (p.(Cys339Arg)), ANKH(NM_054027.6):c.1015T>C (p.C339R) - ANKH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
+/. 1 - c.1124_1126del r.(?) p.(Ser375del) - pathogenic g.14716832_14716834del g.14716723_14716725del - - ANKH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1129_1131del r.(?) p.(Phe377del) - pathogenic g.14716829_14716831del g.14716720_14716722del - - ANKH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1172T>C r.(?) p.(Leu391Pro) - pathogenic g.14713746A>G g.14713637A>G - - ANKH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1237G>A r.(?) p.(Ala413Thr) - VUS g.14713681C>T g.14713572C>T ANKH(NM_054027.4):c.1237G>A (p.(Ala413Thr)) - ANKH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1266-6C>T r.(=) p.(=) - VUS g.14713088G>A g.14712979G>A ANKH(NM_054027.4):c.1266-6C>T (p.(=)) - ANKH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1402dup r.(?) p.(Glu468Glyfs*25) - VUS g.14711387dup - ANKH(NM_054027.6):c.1402dupG (p.E468Gfs*25) - ANKH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*11G>A r.(=) p.(=) - likely benign g.14711295C>T g.14711186C>T - - ANKH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*31A>G r.(=) p.(=) - benign g.14711275T>C g.14711166T>C - - ANKH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*580C>T r.(=) p.(=) - likely benign g.14710726G>A g.14710617G>A - - ANKH_000023 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs192753009 Germline - 16/2795 individuals - - - Mohammed Faruq
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