All transcript variants in gene FTHL17

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

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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.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
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