Full data view for gene ABCB11

Information The variants shown are described using the NM_003742.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.270T>C r.(?) p.(Phe90=) Unknown - benign g.169869901A>G g.169013391A>G ABCB11(NM_003742.2):c.270T>C (p.F90=), ABCB11(NM_003742.4):c.270T>C (p.F90=) - ABCB11_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.270T>C r.(?) p.(Phe90=) Unknown - benign g.169869901A>G g.169013391A>G ABCB11(NM_003742.2):c.270T>C (p.F90=), ABCB11(NM_003742.4):c.270T>C (p.F90=) - ABCB11_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.270T>C r.(=) p.(=) Parent #1 - likely benign g.169869901A>G g.169013391A>G - - ABCB11_000035 217 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4148777 Germline - 217/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 217 Mohammed Faruq
-?/. - c.270T>C r.(=) p.(=) Both (homozygous) - likely benign g.169869901A>G g.169013391A>G - - ABCB11_000035 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4148777 Germline - 4/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
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