Unique variants in gene ARMCX6

Information The variants shown are described using the NM_019007.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
Legend  

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.8G>A VUS r.(?) p.(Arg3Gln) g.100871603C>T - ARMCX6(NM_001184768.1):c.8G>A (p.R3Q) - ARMCX6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 3 c.18T>C - r.(?) p.(=) g.100871593A>G - N6N - ARMCX6_000005 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
?/. 1 - c.225G>C VUS r.(?) p.(Trp75Cys) g.100871386C>G - ARMCX6(NM_001184768.1):c.225G>C (p.W75C) - ARMCX6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.347A>G likely benign r.(?) p.(Gln116Arg) g.100871264T>C - ARMCX6(NM_001009584.1):c.347A>G (p.(Gln116Arg)) - ARMCX6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 3 c.463A>G - r.(?) p.(Ser155Gly) g.100871148T>C - S155G - ARMCX6_000004 recurrent, found 29 times PubMed: Tarpey 2009 - - Germline - 29/208 cases - - - Lucy Raymond
Legend