All variants in the ARMC2 gene

Information The variants shown are described using the NM_032131.4 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.421C>T r.(?) p.(Gln141*) - pathogenic (recessive) g.109190156C>T g.108868953C>T - - ARMC2_000005 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline yes - - - - Johan den Dunnen
+/. - c.796del r.(?) p.(Glu266Lysfs*15) - pathogenic g.109220944del - - - ARMC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.796G>A r.(?) p.(Glu266Lys) - VUS g.109220944G>A - ARMC2(NM_032131.6):c.796G>A (p.(Glu266Lys)) - ARMC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 8i c.1023+1G>A r.848_1023del p.Glu283Alafs*2 - pathogenic (recessive) g.109225609G>A g.108904406G>A - - ARMC2_000001 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 1/167 cases - - - Johan den Dunnen
+/. - c.1284_1288del r.(?) p.(Lys428Asnfs*3) - pathogenic (recessive) g.109233695_109233699del g.108912492_108912496del 1284_1288delACAAA - ARMC2_000004 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 1/167 cases - - - Johan den Dunnen
+/. - c.1596+1G>C r.spl? p.? - pathogenic g.109258203G>C - ARMC2(NM_032131.6):c.1596+1G>C - ARMC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1858G>A r.(?) p.(Val620Met) - likely benign g.109274497G>A - ARMC2(NM_032131.6):c.1858G>A (p.V620M) - ARMC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2279T>A r.(?) p.(Ile760Asn) - pathogenic (recessive) g.109285509T>A g.108964306T>A - - ARMC2_000002 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 1/167 cases - - - Johan den Dunnen
+/. - c.2353_2354del r.(?) p.(Leu785Metfs*5) - pathogenic (recessive) g.109286250_109286251del g.108965047_108965048del 2353_2354delTT - ARMC2_000003 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 1/167 cases - - - Johan den Dunnen
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