Unique variants in the ABCC4 gene

Information The variants shown are described using the NM_005845.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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     
?/. 1 - c.317A>G r.(?) p.(Lys106Arg) - VUS g.95887078T>C g.95234824T>C ABCC4(NM_005845.4):c.317A>G (p.K106R) - ABCC4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.532-1443C>T r.(=) p.(=) - VUS g.95864478G>A g.95212224G>A - - ABCC4_000001 - - - - Germline - - - - - Yu Sun
./. 1 - c.1085G>A r.(?) p.(Arg362Gln) - likely pathogenic g.95858862C>T g.95206608C>T NM_005845.4(ABCC4):c.1085G>A p.(Arg362Gln) - ABCC4_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
./. 1 - c.1150C>T r.(?) p.(Arg384*) - VUS g.95858797G>A g.95206543G>A - - ABCC4_000009 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
?/. 1 - c.1185A>G r.(?) p.(Ile395Met) - VUS g.95847168T>C g.95194914T>C ABCC4(NM_001105515.1):c.1185A>G (p.(Ile395Met)) - ABCC4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1825-7A>G r.(=) p.(=) - likely benign g.95818628T>C g.95166374T>C ABCC4(NM_001105515.1):c.1825-7A>G (p.(=)) - ABCC4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.2468dup r.(?) p.(Asn823Lysfs*12) - VUS g.95768245dup g.95115991dup 2468dupA - ABCC4_000006 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
?/. 1 - c.2672G>T r.(?) p.(Arg891Leu) - VUS g.95735408C>A g.95083154C>A ABCC4(NM_005845.4):c.2672G>T (p.R891L) - ABCC4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2964G>A r.(?) p.(Thr988=) - likely benign g.95725512C>T g.95073258C>T ABCC4(NM_005845.4):c.2964G>A (p.T988=) - ABCC4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3482A>G r.(?) p.(Asp1161Gly) - likely benign g.95696667T>C g.95044413T>C ABCC4(NM_005845.4):c.3482A>G (p.D1161G) - ABCC4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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