All transcript variants in gene FASTKD2

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-4801C>A VUS r.(?) p.(=) g.207625628C>A - MDH1B(NM_001039845.1):c.132G>T (p.(Trp44Cys)) - FASTKD2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.29G>C likely benign r.(?) p.(Ser10Thr) g.207631446G>C - FASTKD2(NM_001136194.1):c.29G>C (p.S10T) - FASTKD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.149A>G likely benign r.(?) p.(Lys50Arg) g.207631566A>G - FASTKD2(NM_001136194.1):c.149A>G (p.K50R) - FASTKD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1193A>T VUS r.(?) p.(Asp398Val) g.207636983A>T - FASTKD2(NM_001136194.1):c.1193A>T (p.D398V) - FASTKD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1651_1653del VUS r.(?) p.(Asp551del) g.207652717_207652719del - FASTKD2(NM_001136193.1):c.1647_1649del (p.(Asp551del)) - FASTKD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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