Full data view for gene ABCB1

Information The variants shown are described using the NM_000927.4 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.-1A>G r.(?) p.(=) Unknown - benign g.87229501T>C g.87600185T>C ABCB1(NM_000927.4):c.-1A>G - ABCB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1199G>A r.(?) p.(Ser400Asn) Parent #1 - benign g.87179809C>T g.87550493C>T - - ABCB1_000012 53 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229109 Germline - 53/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 53 Mohammed Faruq
-/. - c.1236T>C r.(?) p.(Gly412=) Unknown - benign g.87179601A>G g.87550285A>G ABCB1(NM_000927.4):c.1236T>C (p.G412=) - ABCB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2380C>T r.(?) p.(Arg794*) Maternal (confirmed) - pathogenic (recessive) g.87168601G>A g.87539285G>A - - ABCB1_000013 - PubMed: Baudou 2020 - - Germline - - - 0 - DNA SEQ - - ? patient PubMed: Baudou 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no France - - 0 - - 1 Johan den Dunnen
-/. - c.2677T>G r.(?) p.(Ser893Ala) Unknown - benign g.87160618A>C g.87531302A>C ABCB1(NM_000927.4):c.2677T>G (p.S893A) - ABCB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2686-1911T>C r.(=) p.(=) Unknown - VUS g.87152103A>G g.87522787A>G - - ABCB1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2686-1853T>C r.(=) p.(=) Unknown - VUS g.87152045A>G g.87522729A>G - - ABCB1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2686-1601G>A r.(=) p.(=) Unknown - VUS g.87151793C>T g.87522477C>T - - ABCB1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2686-1466G>A r.(=) p.(=) Unknown - VUS g.87151658C>T g.87522342C>T - - ABCB1_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2686-1332G>C r.(=) p.(=) Unknown - VUS g.87151524C>G g.87522208C>G - - ABCB1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2686-898A>G r.(=) p.(=) Both (homozygous) - VUS g.87151090T>C g.87521774T>C - - ABCB1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2686-898A>G r.(=) p.(=) Both (homozygous) - VUS g.87151090T>C g.87521774T>C - - ABCB1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.3053_3056del r.(?) p.(Ile1018Thrfs*8) Paternal (confirmed) - pathogenic (recessive) g.87145853_87145856del g.87516537_87516540del 3053_3056delITTGA - ABCB1_000014 - PubMed: Baudou 2020 - - Germline - - - 0 - DNA SEQ - - ? patient PubMed: Baudou 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no France - - 0 - - 1 Johan den Dunnen
-/. - c.3435T>C r.(?) p.(Ile1145=) Unknown - benign g.87138645A>G g.87509329A>G ABCB1(NM_000927.4):c.3435T>C (p.I1145=) - ABCB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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