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.141G>A - r.(=) p.(=) g.31089930C>T - V47V - FTHL17_000002 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - 0 - Lucy Raymond
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