Full data view for gene FTHL17

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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VIP     

Data_av     

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Panel size     

Owner     
-?/. _1_ c.-100_*161{2} r.(?) p.(=) Maternal (confirmed) - 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 - DNA MLPA, SEQ, SEQ-ON, SEQ-NG - - Healthy/Control FamIndII2 PubMed: Chin 2021 3-generation family, carrier mother/daugther, carrier fetus/uncle - - Canada - - 0 - - 4 Johan den Dunnen
+?/. _1_ c.-100_*161{2} r.? p.? Maternal (confirmed) - 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 - DNA arrayCGH, SEQ-ON - - ? FamPatII1 PubMed: Chin 2021 3-generation family, 3 carrier females, carrier male (PatII1, uncle) and carrier fetus (PatIII2; incidentally detected partial duplication DMD gene in daughter (PatIII1) F - United States - - 0 - - 5 Johan den Dunnen
-?/. - c.141G>A r.(=) p.(=) Parent #1 - likely benign g.31089930C>T g.31071813C>T V47V - FTHL17_000002 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 11 Lucy Raymond
-?/. - c.229C>T r.(?) p.(Arg77Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268G>C r.(?) p.(Glu90Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.281G>A r.(?) p.(Trp94Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.301A>G r.(?) p.(Met101Val) Unknown - likely benign g.31089770T>C - FTHL17(NM_031894.2):c.301A>G (p.M101V) - FTHL17_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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