All variants in the ANKH gene

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

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
+/. 6 c.731T>C r.(?) p.(Leu244Ser) - pathogenic g.14749372A>G g.14749263A>G - - ANKH_000001 - PubMed: Morava 2011 - - Germline - - - 0 - Jirko Kühnisch
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