Full data view for gene ABCB7

Information The variants shown are described using the NM_004299.4 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.73G>C r.(?) p.(Ala25Pro) Unknown - likely benign g.74376035C>G g.75156200C>G ABCB7(NM_004299.6):c.73G>C (p.A25P) - ABCB7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121T>C r.(?) p.(Trp41Arg) Unknown - likely benign g.74375987A>G - ABCB7(NM_004299.6):c.121T>C (p.W41R) - ABCB7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.151A>G r.(?) p.(Thr51Ala) Unknown - likely benign g.74375957T>C g.75156122T>C ABCB7(NM_001271696.1):c.151A>G (p.(Thr51Ala)) - ABCB7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168+69C>G r.(=) p.(=) Maternal (inferred) - likely benign g.74375871G>C g.75156036G>C - - ABCB7_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.168+69C>G r.(=) p.(=) Maternal (inferred) - likely benign g.74375871G>C g.75156036G>C - - ABCB7_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.204G>C r.(?) p.(Gln68His) Unknown - likely benign g.74334634C>G g.75114799C>G ABCB7(NM_004299.6):c.204G>C (p.Q68H) - ABCB7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214A>G r.(?) p.(Lys72Glu) Unknown - likely benign g.74334624T>C g.75114789T>C ABCB7(NM_001271696.1):c.211A>G (p.(Lys71Glu)), ABCB7(NM_004299.6):c.214A>G (p.K72E) - ABCB7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214A>G r.(?) p.(Lys72Glu) Unknown - likely benign g.74334624T>C - ABCB7(NM_001271696.1):c.211A>G (p.(Lys71Glu)), ABCB7(NM_004299.6):c.214A>G (p.K72E) - ABCB7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.249+1G>A r.spl? p.? Parent #1 - likely benign g.74334588C>T g.75114753C>T - - ABCB7_000024 9 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61323727 Germline - 9/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
-?/. - c.249+1G>A r.spl? p.? Unknown - likely benign g.74334588C>T g.75114753C>T - - ABCB7_000024 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61323727 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.249+1G>A r.spl? p.? Unknown - likely benign g.74334588C>T - ABCB7(NM_001271696.1):c.246+1G>A (p.?) - ABCB7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.249+1G>A r.spl? p.? Unknown - VUS g.74334588C>T - ABCB7(NM_001271696.1):c.246+1G>A (p.?) - ABCB7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.315C>T r.(?) p.(Leu105=) Unknown - benign g.74332742G>A - ABCB7(NM_001271696.1):c.312C>T (p.(Leu104=)) - ABCB7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336+126dup r.(=) p.(=) Maternal (inferred) - likely benign g.74332595dup g.75112760dup - - ABCB7_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.336+126dup r.(=) p.(=) Maternal (inferred) - likely benign g.74332595dup g.75112760dup - - ABCB7_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.336+126dup r.(=) p.(=) Unknown - likely benign g.74332595dup g.75112760dup - - ABCB7_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.336+126dup r.(=) p.(=) Maternal (inferred) - likely benign g.74332595dup g.75112760dup - - ABCB7_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.336+126_336+127dup r.(=) p.(=) Unknown - likely benign g.74332594_74332595dup g.75112759_75112760dup - - ABCB7_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.337-7del r.(=) p.(=) Unknown - VUS g.74318905del - ABCB7(NM_004299.6):c.337-7delT - ABCB7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.741G>A r.(?) p.(=) Unknown - likely benign g.74295314C>T - ABCB7(NM_004299.6):c.741G>A (p.T247=) - ABCB7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.941G>A r.(?) p.(Arg314Gln) Parent #1 - VUS g.74293709C>T g.75073874C>T - - ABCB7_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - ? - - European - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Johan den Dunnen
-?/. - c.941G>A r.(?) p.(Arg314Gln) Unknown - likely benign g.74293709C>T g.75073874C>T ABCB7(NM_001271696.1):c.938G>A (p.(Arg313Gln)), ABCB7(NM_004299.6):c.941G>A (p.R314Q) - ABCB7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.941G>A r.(?) p.(Arg314Gln) Unknown - likely benign g.74293709C>T g.75073874C>T ABCB7(NM_001271696.1):c.938G>A (p.(Arg313Gln)), ABCB7(NM_004299.6):c.941G>A (p.R314Q) - ABCB7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.948-7C>T r.(=) p.(=) Unknown - likely benign g.74293618G>A g.75073783G>A ABCB7(NM_001271696.1):c.945-7C>T (p.(=)) - ABCB7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1126G>A r.(?) p.(Ala376Thr) Unknown - VUS g.74291428C>T - - - ABCB7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1177A>G r.(?) p.(Ile393Val) Unknown - likely benign g.74291377T>C g.75071542T>C ABCB7(NM_001271696.1):c.1174A>G (p.(Ile392Val)), ABCB7(NM_004299.6):c.1177A>G (p.I393V) - ABCB7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1177A>G r.(?) p.(Ile393Val) Unknown - VUS g.74291377T>C g.75071542T>C ABCB7(NM_001271696.1):c.1174A>G (p.(Ile392Val)), ABCB7(NM_004299.6):c.1177A>G (p.I393V) - ABCB7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1203T>G r.(?) p.(Ile401Met) Maternal (confirmed) - pathogenic g.74291351A>C g.75071516A>C 1200T>G, I400M - ABCB7_000001 - PubMed: Allikmets 1999, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - ASAT - PubMed: Pagan 1985, PubMed: Allikmets 1999 3-generation family, 4 affected males 9 carrier females M - United States European American - - - - 4 Johan den Dunnen
+/. 9 c.1203T>G r.(?) p.(Ile401Met) Unknown - pathogenic g.74291351A>C g.75071516A>C 1200T>G, I400M - ABCB7_000001 not in 600 controls PubMed: Allikmets 1999, OMIM:var0001 - - Germline yes - - - - DNA SSCA, SEQ - - Healthy/Control - PubMed: Allikmets 1999 - M - United States European American - - - - 1 Johan den Dunnen
+/. 9 c.1203T>G r.(?) p.Ile401Met Unknown - NA g.74291351A>C g.75071516A>C 1200T>G, I400M - ABCB7_000001 cloned in yeast ATM1 (V365M), partial loss of function (reduced growth rate iron limiting conditions) PubMed: Allikmets 1999, OMIM:var0001 - - In vitro (cloned) - - - 1 - - - - - - - - - - - - - - - - - - -
+/. 10 c.1234G>C r.1234g>c p.Val412Leu Maternal (confirmed) - pathogenic g.74290334C>G g.75070499C>G 1299G>C, V411L - ABCB7_000003 - PubMed: Maguire 2001, OMIM:var0003 - - Germline yes - MaeI- - - DNA, RNA RT-PCR, SEQ - - ASAT - PubMed: Maguire 2001 4 affected males M - United Kingdom (Great Britain) Europe, North - - - - 4 Johan den Dunnen
+/. 10 c.1234G>C r.(?) p.(Val412Leu) Unknown - pathogenic g.74290334C>G g.75070499C>G 1299G>C, V411L - ABCB7_000003 not in 200 controls PubMed: Maguire 2001, OMIM:var0003 - - Germline yes - MaeI- - - DNA SEQ - - Healthy/Control - PubMed: Maguire 2001 - - - - ? - - - - 1 Johan den Dunnen
+/. 10 c.1300G>A r.(?) p.(Glu434Lys) Maternal (confirmed) - pathogenic g.74290268C>T g.75070433C>T G1305A, E433K - ABCB7_000002 - PubMed: Bekri 2000, OMIM:var0002 - - Germline yes - BsmAI- - - DNA PCR, SEQ - - ASAT - PubMed: Bekri 2000 family, 2 affected males M - - white - - - - 2 Johan den Dunnen
+/. 10 c.1300G>A r.(?) p.(Glu434Lys) Unknown - pathogenic g.74290268C>T g.75070433C>T G1305A, E433K - ABCB7_000002 not in 120 controls PubMed: Bekri 2000, OMIM:var0002 - - Germline yes - BsmAI- - - DNA PCR, SEQ - - Healthy/Control - PubMed: Bekri 2000 - - - - white - - - - 1 Johan den Dunnen
+?/. 10 c.1300G>A r.(?) p.Glu434Lys Unknown - NA g.74290268C>T g.75070433C>T G1305A, E433K - ABCB7_000002 cloned in yeast ATM1 (Atm1p D398K), reduced cytosolic Fe/S protein maturation PubMed: Bekri 2000, OMIM:var0002 - - In vitro (cloned) - - - 1 - - - - - - - - - - - - - - - - - - -
?/. 10 c.1323T>C r.(?) p.(Asp441=) Unknown - VUS g.74290245A>G g.75070410A>G D441D - ABCB7_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - rs45598734 Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - ? - - European - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Johan den Dunnen
-?/. - c.1323T>C r.(?) p.(Asp441=) Unknown - likely benign g.74290245A>G g.75070410A>G ABCB7(NM_001271696.1):c.1320T>C (p.(Asp440=)) - ABCB7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386T>C r.(?) p.(Ser462=) Unknown - likely benign g.74289272A>G g.75069437A>G ABCB7(NM_004299.6):c.1386T>C (p.S462=) - ABCB7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1417G>A r.(?) p.(Val473Met) Maternal (confirmed) - likely pathogenic g.74289241C>T g.75069406C>T NM_001271697:1294G>A - ABCB7_000028 - PubMed: Jin 2017 - - Germline - - - - - DNA SEQ-NG - WES ? H42 PubMed: Jin 2017 - - - China - - - - - 1 LOVD
?/. - c.1495G>A r.(?) p.(Gly499Arg) Unknown - VUS g.74289163C>T - ABCB7(NM_001271696.2):c.1492G>A (p.G498R) - ABCB7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1592A>G r.(?) p.(Tyr531Cys) Unknown - VUS g.74288912T>C g.75069077T>C ABCB7(NM_001271696.1):c.1589A>G (p.(Tyr530Cys)) - ABCB7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1592A>G r.(?) p.(Tyr531Cys) Maternal (confirmed) - benign g.74288912T>C g.75069077T>C ABCB7 c.1472A>G (Y491C) - ABCB7_000011 - PubMed: Bugiardin1 2019 - - Germline - - - - - DNA SEQ-NG - trio WES ? patient PubMed: Bugiardin1 2019 2-generation family, 1 affected, unaffected heterozygous parents M no - - - - - - 1 Johan den Dunnen
-?/. - c.1742C>T r.(?) p.(Ala581Val) Unknown - likely benign g.74284997G>A g.75065162G>A ABCB7(NM_001271696.1):c.1739C>T (p.(Ala580Val)) - ABCB7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1767T>G r.(?) p.(His589Gln) Unknown - VUS g.74284972A>C - ABCB7(NM_004299.6):c.1767T>G (p.H589Q) - ABCB7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1799A>T r.(?) p.(Asp600Val) Unknown - likely benign g.74284940T>A - ABCB7(NM_004299.6):c.1799A>T (p.D600V) - ABCB7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1938+8A>G r.(=) p.(=) Unknown - likely benign g.74282155T>C - ABCB7(NM_004299.6):c.1938+8A>G - ABCB7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1938+9T>C r.(=) p.(=) Unknown - likely benign g.74282154A>G g.75062319A>G ABCB7(NM_004299.6):c.1938+9T>C - ABCB7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2047-8del r.(=) p.(=) Unknown - likely benign g.74273428del - ABCB7(NM_004299.6):c.2047-8delC - ABCB7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2228A>G r.(?) p.(Asn743Ser) Unknown - VUS g.74273239T>C g.75053404T>C ABCB7(NM_004299.6):c.2228A>G (p.N743S) - ABCB7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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