Unique variants in gene FGF9

Information The variants shown are described using the NM_002010.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

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     
-?/. 1 - c.89C>T likely benign r.(?) p.(Pro30Leu) g.22246140C>T - FGF9(NM_002010.2):c.89C>T (p.(Pro30Leu)) - FGF9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.184A>G pathogenic r.(?) p.(Arg62Gly) g.22246235A>G - FGF9(NM_002010.2):c.184A>G (p.(Arg62Gly)) - FGF9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.278-14C>T benign r.(=) p.(=) g.22255167C>T - FGF9(NM_002010.2):c.278-14C>T (p.?) - FGF9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 2 - c.381+17C>T benign r.(=) p.(=) g.22255301C>T - FGF9(NM_002010.2):c.381+17C>T (p.?) - FGF9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 1 - c.382-136T>C - - p.(=) g.22275193T>C g.21701054T>C - - FGF9_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.382-119T>C - - p.(=) g.22275210T>C g.21701071T>C - - FGF9_000002 - - - - Germline - - - - - Yu Sun
-/. 2 - c.447A>G benign r.(?) p.(=) g.22275394A>G - FGF9(NM_002010.2):c.447A>G (p.S149=) - FGF9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 2 - c.*9G>A benign r.(=) p.(=) g.22275583G>A - FGF9(NM_002010.2):c.*9G>A (p.?) - FGF9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
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