All variants in the ANKH gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.1015T>C r.(?) p.(Cys339Arg) - likely pathogenic 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 - - - 0 - VKGL-NL_Groningen
?/. - c.1015T>C r.(?) p.(Cys339Arg) - 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 - - - 0 - VKGL-NL_Leiden
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