Unique variants in the FTHL17 gene

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     

Reported     

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     
+?/., -?/. 2 _1_ c.-100_*161{2} r.(?), r.? p.(=), p.? - benign g.31362638_31362639ins[T;30939526_31362638] g.31344521_31344522ins[T;30921409_31344521] dup FTHL17, DMD ex62_79, hg19 30939526–31362638dup - DMD_068312 duplication exons 62-79, variant not associated with a phenotype PubMed: Chin 2021 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.141G>A r.(=) p.(=) - likely benign g.31089930C>T g.31071813C>T V47V - FTHL17_000002 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - - - Lucy Raymond
-?/. 1 - c.229C>T r.(?) p.(Arg77Cys) - likely benign g.31089842G>A g.31071725G>A FTHL17(NM_031894.2):c.229C>T (p.(Arg77Cys)) - FTHL17_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.268G>C r.(?) p.(Glu90Gln) - likely benign g.31089803C>G g.31071686C>G FTHL17(NM_031894.2):c.268G>C (p.E90Q) - FTHL17_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.281G>A r.(?) p.(Trp94Ter) - VUS g.31089790C>T g.31071673C>T FTHL17(NM_031894.2):c.281G>A (p.W94*) - FTHL17_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.301A>G r.(?) p.(Met101Val) - likely benign g.31089770T>C - FTHL17(NM_031894.2):c.301A>G (p.M101V) - FTHL17_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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