All transcript variants in gene FASTKD2

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

3 entries on 1 page. Showing entries 1 - 3.
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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.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
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