All transcript variants in gene ABCC1

Information The variants shown are described using the NM_004996.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
./. - c.-1238228_*326013dup - r.? p.? g.14805381_16561151dup g.14711524_16467294dup - - MYH11_000002 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
./. - c.-548905_*153322del - r.? p.? g.15494704_16388460del g.15400847_16294603del - - MYH11_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
?/. - c.48+5G>A VUS r.spl? p.? g.16043661G>A - ABCC1(NM_004996.3):c.48+5G>A (p.?) - ABCC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1299G>T - r.(?) p.(Arg433Ser) g.16142079G>T g.16048222G>T - - ABCC1_000005 no interpretation available; 17 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs60782127 Germline - 17/2778 individuals - 0 - Mohammed Faruq
?/. - c.2168G>A - r.(?) p.(Arg723Gln) g.16177275G>A g.16083418G>A - - ABCC1_000006 61 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs4148356 Germline - 61/2733 individuals - 0 - Mohammed Faruq
?/. - c.2876A>G VUS r.(?) p.(Lys959Arg) g.16205236A>G - ABCC1(NM_004996.3):c.2876A>G (p.(Lys959Arg)) - ABCC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3901C>T VUS r.(?) p.(Arg1301Cys) g.16225727C>T - ABCC1(NM_004996.3):c.3901C>T (p.(Arg1301Cys)) - ABCC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4343C>T VUS r.(?) p.(Thr1448Met) g.16232271C>T - ABCC1(NM_004996.3):c.4343C>T (p.(Thr1448Met)) - ABCC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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