All transcript variants in gene FASTKD2

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

7 entries on 1 page. Showing entries 1 - 7.
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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.29G>C r.(?) p.(Ser10Thr) - likely benign g.207631446G>C g.206766722G>C FASTKD2(NM_001136194.1):c.29G>C (p.S10T) - FASTKD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.44G>A r.(?) p.(Ser15Asn) - benign g.207631461G>A g.206766737G>A - - FASTKD2_000004 - - - rs3762568 Germline - frequency 12-20% - 0 - Andreas Laner
-?/. - c.149A>G r.(?) p.(Lys50Arg) - likely benign g.207631566A>G g.206766842A>G FASTKD2(NM_001136194.1):c.149A>G (p.K50R) - FASTKD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.777+172_777+173insGGTA r.(=) p.(=) - VUS g.207632366_207632367insGGTA g.206767642_206767643insGGTA - - FASTKD2_000001 - - - rs3214431 Germline - - - 0 - Andreas Laner
?/. - c.1193A>T r.(?) p.(Asp398Val) - VUS g.207636983A>T g.206772259A>T FASTKD2(NM_001136194.1):c.1193A>T (p.D398V) - FASTKD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1255-55A>C r.(=) p.(=) - VUS g.207638894A>C g.206774170A>C - - FASTKD2_000002 - - - rs73985719 Germline - - - 0 - Andreas Laner
?/. - c.1813+26T>G r.(=) p.(=) - VUS g.207652905T>G g.206788181T>G - - FASTKD2_000003 - - - - Germline - - - 0 - Andreas Laner
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