All variants in the FAM9A gene

Information The variants shown are described using the NM_174951.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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     
?/. - c.91+2T>C r.spl? p.? - VUS g.8768120A>G g.8800079A>G FAM9A(NM_001171186.1):c.91+2T>C - FAM9A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.203C>G r.(?) p.(Pro68Arg) - VUS g.8767024G>C g.8798983G>C FAM9A(NM_001171186.1):c.203C>G (p.P68R) - FAM9A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 c.238G>A r.(?) p.(Asp80Asn) - VUS g.8766503C>T g.8798462C>T D80N - FAM9A_000013 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - 0 - Lucy Raymond
-?/. - c.325A>G r.(?) p.(Lys109Glu) - likely benign g.8766416T>C g.8798375T>C FAM9A(NM_001171186.1):c.325A>G (p.K109E) - FAM9A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 6 c.427G>A r.(?) p.(Ala143Thr) - VUS g.8764370C>T g.8796329C>T A143T - FAM9A_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.610G>A r.(?) p.(Ala204Thr) - likely benign g.8763340C>T g.8795299C>T FAM9A(NM_001171186.1):c.610G>A (p.A204T) - FAM9A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.623_640del r.(?) p.(Glu208_Ala213del) - likely benign g.8763341_8763358del g.8795300_8795317del FAM9A(NM_001171186.1):c.623_640del (p.(Glu208_Ala213del)) - FAM9A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.623_640dup r.(?) p.(Glu208_Ala213dup) - likely benign g.8763341_8763358dup g.8795300_8795317dup FAM9A(NM_001171186.1):c.640_641insAAGCCGCAGCAGCAGCAG (p.(Glu208_Ala213dup)) - FAM9A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.694_696del r.(?) p.(Glu232del) - VUS g.8763268_8763270del g.8795227_8795229del FAM9A(NM_001171186.1):c.694_696del (p.(Glu232del)) - FAM9A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.749_757del r.(?) p.(Glu250_Gly252del) - likely benign g.8763207_8763215del g.8795166_8795174del FAM9A(NM_001171186.1):c.749_757del (p.(Glu250_Gly252del)) - FAM9A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.752_754del r.(?) p.(Glu251del) - VUS g.8763201_8763203del g.8795160_8795162del FAM9A(NM_001171186.1):c.752_754del (p.(Glu251del)) - FAM9A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.767_769del r.(?) p.(Gly256del) - VUS g.8763195_8763197del g.8795154_8795156del FAM9A(NM_001171186.1):c.767_769del (p.(Gly256del)) - FAM9A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.937A>G r.(?) p.(Lys313Glu) - VUS g.8759414T>C g.8791373T>C FAM9A(NM_001171186.1):c.937A>G (p.K313E, p.(Lys313Glu)) - FAM9A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.937A>G r.(?) p.(Lys313Glu) - benign g.8759414T>C g.8791373T>C FAM9A(NM_001171186.1):c.937A>G (p.K313E, p.(Lys313Glu)) - FAM9A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.997T>A r.(?) p.(Ter333LysextTer4) - VUS g.8759354A>T g.8791313A>T FAM9A(NM_001171186.1):c.997T>A (p.(Ter333LysextTer4)) - FAM9A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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