Full data view for gene ABCC1

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

19 entries on 1 page. Showing entries 1 - 19.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-1238228_*326013dup r.? p.? Unknown - pathogenic g.14805381_16561151dup g.14711524_16467294dup - - MYH11_000002 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
./. - c.-548905_*153322del r.? p.? Maternal (confirmed) - pathogenic g.15494704_16388460del g.15400847_16294603del - - MYH11_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/. - c.48+5G>A r.spl? p.? Unknown - VUS g.16043661G>A g.15949804G>A ABCC1(NM_004996.3):c.48+5G>A (p.?) - ABCC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.931C>T r.(?) p.(Pro311Ser) Unknown - VUS g.16138428C>T - ABCC1(NM_004996.3):c.931C>T (p.P311S) - ABCC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1199T>C r.(?) p.(Ile400Thr) Unknown - VUS g.16139851T>C - ABCC1(NM_004996.3):c.1199T>C (p.I400T) - ABCC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1235A>G r.(?) p.(Asn412Ser) Unknown - likely benign g.16142015A>G - ABCC1(NM_004996.3):c.1235A>G (p.N412S) - ABCC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1299G>T r.(?) p.(Arg433Ser) Parent #1 - VUS g.16142079G>T g.16048222G>T - - ABCC1_000005 no interpretation available; 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs60782127 Germline - 17/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 17 Mohammed Faruq
-?/. - c.1863C>T r.(?) p.(Ser621=) Unknown - likely benign g.16165537C>T - ABCC1(NM_004996.3):c.1863C>T (p.S621=) - ABCC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2168G>A r.(?) p.(Arg723Gln) Parent #1 - VUS g.16177275G>A g.16083418G>A - - ABCC1_000006 61 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4148356 Germline - 61/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 61 Mohammed Faruq
?/. - c.2876A>G r.(?) p.(Lys959Arg) Unknown - VUS g.16205236A>G g.16111379A>G ABCC1(NM_004996.3):c.2876A>G (p.(Lys959Arg)) - ABCC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2965G>A r.(?) p.(Ala989Thr) Unknown - likely benign g.16205325G>A - ABCC1(NM_004996.3):c.2965G>A (p.A989T) - ABCC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3171G>A r.(?) p.(Leu1057=) Unknown - likely benign g.16208714G>A - ABCC1(NM_004996.3):c.3171G>A (p.L1057=) - ABCC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3308G>A r.(?) p.(Gly1103Asp) Unknown - VUS g.16208851G>A - ABCC1(NM_004996.3):c.3308G>A (p.G1103D) - ABCC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3346G>A r.(?) p.(Ala1116Thr) Unknown - VUS g.16208889G>A - ABCC1(NM_004996.3):c.3346G>A (p.A1116T) - ABCC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3739C>G r.(?) p.(Leu1247Val) Unknown - VUS g.16219688C>G - ABCC1(NM_004996.3):c.3739C>G (p.L1247V) - ABCC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3901C>T r.(?) p.(Arg1301Cys) Unknown - VUS g.16225727C>T g.16131870C>T ABCC1(NM_004996.3):c.3901C>T (p.(Arg1301Cys)) - ABCC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4185G>A r.(?) p.(Ser1395=) Unknown - likely benign g.16230394G>A - ABCC1(NM_004996.3):c.4185G>A (p.S1395=) - ABCC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4257A>G r.(?) p.(Leu1419=) Unknown - likely benign g.16230466A>G - ABCC1(NM_004996.3):c.4257A>G (p.L1419=) - ABCC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4343C>T r.(?) p.(Thr1448Met) Unknown - VUS g.16232271C>T g.16138414C>T ABCC1(NM_004996.3):c.4343C>T (p.(Thr1448Met)) - ABCC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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