Unique variants in the ABCB7 gene

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.73G>C r.(?) p.(Ala25Pro) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.121T>C r.(?) p.(Trp41Arg) - likely benign g.74375987A>G - ABCB7(NM_004299.6):c.121T>C (p.W41R) - ABCB7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.151A>G r.(?) p.(Thr51Ala) - 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 - - - - - VKGL-NL_Leiden
-?/. 2 - c.168+69C>G r.(=) p.(=) - likely benign g.74375871G>C g.75156036G>C - - ABCB7_000008 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.204G>C r.(?) p.(Gln68His) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.214A>G r.(?) p.(Lys72Glu) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 3 - c.249+1G>A r.spl? p.? - likely benign g.74334588C>T g.75114753C>T ABCB7(NM_001271696.1):c.246+1G>A (p.?) - ABCB7_000024 1 homozygous; Clinindb (India), 9 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs61323727 CLASSIFICATION record, Germline - 1/2794 individuals, 9/2794 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-/. 1 - c.315C>T r.(?) p.(Leu105=) - benign g.74332742G>A - ABCB7(NM_001271696.1):c.312C>T (p.(=)) - ABCB7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 4 - c.336+126dup r.(=) p.(=) - likely benign g.74332595dup g.75112760dup - - ABCB7_000006, ABCB7_000007 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.336+126_336+127dup r.(=) p.(=) - likely benign g.74332594_74332595dup g.75112759_75112760dup - - ABCB7_000009 - - - - Germline - - - - - Yu Sun
-?/., ?/. 3 7 c.941G>A r.(?) p.(Arg314Gln) - likely benign, VUS 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 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.948-7C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.1177A>G r.(?) p.(Ile393Val) - likely benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 3 9 c.1203T>G r.(?) p.(Ile401Met), p.Ile401Met - NA, pathogenic g.74291351A>C g.75071516A>C 1200T>G, I400M - ABCB7_000001 not in 600 controls, 1 more item PubMed: Allikmets 1999, OMIM:var0001 - - Germline, In vitro (cloned) yes - - 1 - Johan den Dunnen
+/. 2 10 c.1234G>C r.(?), r.1234g>c p.(Val412Leu), p.Val412Leu - pathogenic g.74290334C>G g.75070499C>G 1299G>C, V411L - ABCB7_000003 not in 200 controls PubMed: Maguire 2001, OMIM:var0003 - - Germline yes - MaeI- - - Johan den Dunnen
+/., +?/. 3 10 c.1300G>A r.(?) p.(Glu434Lys), p.Glu434Lys - NA, pathogenic g.74290268C>T g.75070433C>T G1305A, E433K - ABCB7_000002 cloned in yeast ATM1 (Atm1p D398K), reduced cytosolic Fe/S protein maturation, not in 120 controls PubMed: Bekri 2000, OMIM:var0002 - - Germline, In vitro (cloned) yes - BsmAI- 1 - Johan den Dunnen
-?/., ?/. 2 10 c.1323T>C r.(?) p.(Asp441=) - likely benign, VUS g.74290245A>G g.75070410A>G ABCB7(NM_001271696.1):c.1320T>C (p.(=)), D441D - ABCB7_000005 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - rs45598734 CLASSIFICATION record, Germline - 1/208 cases - - - Johan den Dunnen, VKGL-NL_Leiden
-?/. 1 - c.1386T>C r.(?) p.(Ser462=) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1417G>A r.(?) p.(Val473Met) - likely pathogenic g.74289241C>T g.75069406C>T NM_001271697:1294G>A - ABCB7_000028 - PubMed: Jin 2017 - - Germline - - - - - LOVD
?/. 1 - c.1592A>G r.(?) p.(Tyr531Cys) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.1767T>G r.(?) p.(His589Gln) - VUS g.74284972A>C - ABCB7(NM_004299.6):c.1767T>G (p.H589Q) - ABCB7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1938+8A>G r.(=) p.(=) - likely benign g.74282155T>C - ABCB7(NM_004299.6):c.1938+8A>G - ABCB7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1938+9T>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2228A>G r.(?) p.(Asn743Ser) - 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 - - - - - VKGL-NL_Rotterdam
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