Full data view for 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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.8G>A r.(?) p.(Arg3Gln) Unknown - VUS g.100871603C>T - ARMCX6(NM_001184768.1):c.8G>A (p.R3Q) - ARMCX6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.18T>C r.(?) p.(=) Parent #1 - - g.100871593A>G - N6N - ARMCX6_000005 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
?/. - c.225G>C r.(?) p.(Trp75Cys) Unknown - VUS g.100871386C>G - ARMCX6(NM_001184768.1):c.225G>C (p.W75C) - ARMCX6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.347A>G r.(?) p.(Gln116Arg) Unknown - likely benign g.100871264T>C - ARMCX6(NM_001009584.1):c.347A>G (p.(Gln116Arg)) - ARMCX6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.463A>G r.(?) p.(Ser155Gly) Parent #1 - - g.100871148T>C - S155G - ARMCX6_000004 recurrent, found 29 times PubMed: Tarpey 2009 - - Germline - 29/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 29 Lucy Raymond
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