All transcript variants in gene ARMCX6

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

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     
-?/. 3 c.18T>C - r.(?) p.(=) g.100871593A>G - N6N - ARMCX6_000005 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.56G>C likely benign r.(?) p.(Gly19Ala) g.100871555C>G - ARMCX6(NM_001009584.1):c.56G>C (p.(Gly19Ala)) - ARMCX6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - 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 - - - 0 - VKGL-NL
-?/. - 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
?/. 3 c.463A>G - r.(?) p.(Ser155Gly) g.100871148T>C - S155G - ARMCX6_000004 recurrent, found 29 times PubMed: Tarpey 2009 - - Germline - 29/208 cases - 0 - Lucy Raymond
-?/. - c.707C>T likely benign r.(?) p.(Ala236Val) g.100870904G>A - ARMCX6(NM_001009584.1):c.707C>T (p.(Ala236Val)) - ARMCX6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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