Unique variants in the FAM9C gene

Information The variants shown are described using the NM_174901.5 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
?/. 1 - c.183-3C>A r.spl? p.? - VUS g.13061071G>T g.13042952G>T FAM9C(NM_174901.5):c.183-3C>A - FAM9C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.263T>C r.(?) p.(Ile88Thr) - likely benign g.13058943A>G g.13040824A>G FAM9C(NM_174901.5):c.263T>C (p.(Ile88Thr)) - FAM9C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 6 c.337C>T r.(?) p.(Arg113Cys) - VUS g.13058028G>A g.13039909G>A R113C - FAM9C_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
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