All transcript variants in gene FTHL17

Information The variants shown are described using the NM_031894.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.141G>A - r.(=) p.(=) g.31089930C>T - V47V - FTHL17_000002 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - 0 - Lucy Raymond
-?/. - c.143C>T likely benign r.(?) p.(Ala48Val) g.31089928G>A - FTHL17(NM_031894.2):c.143C>T (p.(Ala48Val)) - FTHL17_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.229C>T likely benign r.(?) p.(Arg77Cys) g.31089842G>A - FTHL17(NM_031894.2):c.229C>T (p.(Arg77Cys)) - FTHL17_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.230G>A VUS r.(?) p.(Arg77His) g.31089841C>T - FTHL17(NM_031894.2):c.230G>A (p.(Arg77His)) - FTHL17_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.268G>C likely benign r.(?) p.(Glu90Gln) g.31089803C>G - FTHL17(NM_031894.2):c.268G>C (p.E90Q) - FTHL17_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.281G>A VUS r.(?) p.(Trp94*) g.31089790C>T - FTHL17(NM_031894.2):c.281G>A (p.W94*) - FTHL17_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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