All variants in the FTHL17 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
-?/. _1_ c.-100_*161{2} r.(?) p.(=) - benign g.31362638_31362639ins[T;30939526_31362638] g.31344521_31344522ins[T;30921409_31344521] hg19 30939526–31362638dup - DMD_068312 duplication exons 62-79 PubMed: Chin 2021 - - Germline yes - - 0 - Johan den Dunnen
+?/. _1_ c.-100_*161{2} r.? p.? - benign g.31362638_31362639ins[T;30939526_31362638] - dup FTHL17, DMD ex62_79 - DMD_068312 variant not associated with a phenotype PubMed: Chin 2021 - - Germline yes - - 0 - Johan den Dunnen
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