All transcript 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.
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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.8G>A r.(?) p.(Arg3Gln) - VUS g.100871603C>T g.101616613C>T ARMCX6(NM_001184768.1):c.8G>A (p.R3Q) - ARMCX6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 c.18T>C r.(?) p.(=) - likely benign g.100871593A>G - N6N - ARMCX6_000005 recurrent, found 3 times Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
?/. - c.225G>C r.(?) p.(Trp75Cys) - VUS g.100871386C>G g.101616396C>G ARMCX6(NM_001184768.1):c.225G>C (p.W75C) - ARMCX6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.347A>G r.(?) p.(Gln116Arg) - likely benign g.100871264T>C g.101616274T>C ARMCX6(NM_001009584.1):c.347A>G (p.(Gln116Arg)) - ARMCX6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 3 c.463A>G r.(?) p.(Ser155Gly) - VUS g.100871148T>C g.101616158T>C S155G - ARMCX6_000004 recurrent, found 29 times PubMed: Tarpey 2009 - - Germline - 29/208 cases - 0 - Lucy Raymond
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