Unique variants in the ABCC11 gene

Information The variants shown are described using the NM_032583.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

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     
+/+, +/., -/. 108 5 c.538G>A r.(?) p.(Gly180Arg) - association, benign, pathogenic g.48258198C>T g.48224287C>T ABCC11(NM_033151.4):c.538G>A (p.G180R) - ABCC11_000001 0/10 homozygotes, 0/11 homozygotes, 0/17 homozygotes, 0/33 homozygotes, 0/42 homozygotes, 4 more items PubMed: Rodriguez 2013, PubMed: Yoshiura 2006, OMIM:var0001 - rs17822931 CLASSIFICATION record, Germline - 1/10 individuals, 1/11 individuals, 1/12 individuals, 1/26 individuals, 1/38 individuals, 94 more items - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 - c.1094T>C r.(?) p.(Ile365Thr) - VUS g.48249113A>G g.48215202A>G ABCC11(NM_033151.3):c.1094T>C (p.I365T) - ABCC11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1686C>A r.(?) p.(His562Gln) - likely benign g.48239443G>T g.48205532G>T ABCC11(NM_033151.3):c.1686C>A (p.H562Q) - ABCC11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2084A>G r.(?) p.(Tyr695Cys) - VUS g.48232185T>C g.48198274T>C ABCC11(NM_033151.3):c.2084A>G (p.Y695C) - ABCC11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.2813C>G r.(?) p.(Ser938*) - pathogenic g.48221232G>C g.48187321G>C - - ABCC11_000004 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 2 - c.3778-1G>A r.spl? p.? - pathogenic g.48204130C>T g.48170219C>T - - ABCC11_000003 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
+/+ 6 27 c.3939_3965del r.(?) p.(Asp1303_Arg1320del) - pathogenic g.48201500_48201526del g.48167589_48167615del 3939–3965del27 - ABCC11_000002 - PubMed: Yoshiura 2006, OMIM:var0001 - - Germline - 1/100 individuals, 1/126 individuals, 1/20 individuals, 1/668 individuals, 2/40 individuals, 1 more item - - - Johan den Dunnen
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