All variants in the HMOX1 gene

Information The variants shown are described using the NM_002133.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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.-495A>T - r.(=) p.(=) - association g.35776672A>T g.35380679A>T rs2071746:A>T - HMOX1_000001 associated with increased levels of HbF (P=0.0131); 47/107 heterozygotes and 30 wt show no association PubMed: Gil 2013, Journal: Gil 2013, IthaNet-2120 - rs2071746 Germline - 30/107 cases - - - Johan den Dunnen
-/. _1 c.(-355_-269)[del12_28] S r.(=) p.(=) - benign g.35776812_35776898[del14_28] - GTnAT1GTn repeat - HMOX1_000003 normal expression, promoter upregulated by H2O2 exposure PubMed: Yamada 2000, OMIM:var0003 - - Germline - 159/402 chromosomes - - - Johan den Dunnen
+?/. _1 c.(-355_-269)[del2_10] M r.(=) p.(=) - likely benign g.35776812_35776898[del2_10] - GT repeat - HMOX1_000004 reduced expression, promoter not upregulated by H2O2 exposure; not associated with chronic pulmonary emphysema PubMed: Yamada 2000, OMIM:var0003 - - Germline - 181/402 chromosomes - - - Johan den Dunnen
+/. _1 c.(-355_-269)[ins0_16] L r.(=) p.(=) - association g.35776812_35776898[ins0_16] - GTnAT1GTn repeat - HMOX1_000005 reduced expression, promoter not upregulated by H2O2 exposure; associated with chronic pulmonary emphysema in smokers PubMed: Yamada 2000, OMIM:var0003 - - Germline - 62/402 chromosomes - - - Johan den Dunnen
+/. 1i_2i c.(23+1_145-1)? - r.24_144del p.Met9Trpfs*2 - pathogenic g.(35777190_35782677)? - RNA ex2 del - HMOX1_000000 variant not analysed on genomic DNA {PMID:Yachie:1999:09884342}, OMIM:var0001 - - Germline yes - - - - Johan den Dunnen
?/. - c.23+4A>G - r.spl? p.? - VUS g.35777193A>G - HMOX1(NM_002133.2):c.23+4A>G (p.?) - HMOX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.23+22_23+28dup - r.(=) p.(=) - likely benign g.35777211_35777217dup - HMOX1(NM_002133.3):c.23+20_23+26dupCGCGGGA - HMOX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.269A>C - r.(?) p.(Glu90Ala) - likely benign g.35782802A>C - HMOX1(NM_002133.3):c.269A>C (p.E90A) - HMOX1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.291C>T - r.(?) p.(Tyr97=) - likely benign g.35782824C>T - HMOX1(NM_002133.3):c.291C>T (p.Y97=) - HMOX1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 3 c.324_325del - r.324_325del p.Pro109Serfs*31 - pathogenic g.35782857_35782858del g.35386864_35386865del - - HMOX1_000002 - {PMID:Yachie:1999:09884342}, OMIM:var0002 - - Germline yes - - - - Johan den Dunnen
-?/. - c.330C>T - r.(?) p.(Ala110=) - likely benign g.35782863C>T g.35386870C>T HMOX1(NM_002133.2):c.330C>T (p.A110=), HMOX1(NM_002133.3):c.330C>T (p.A110=) - HMOX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.330C>T - r.(?) p.(Ala110=) - likely benign g.35782863C>T g.35386870C>T HMOX1(NM_002133.2):c.330C>T (p.A110=), HMOX1(NM_002133.3):c.330C>T (p.A110=) - HMOX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.338G>A - r.(?) p.(Arg113His) - likely benign g.35782871G>A - HMOX1(NM_002133.2):c.338G>A (p.R113H) - HMOX1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.378C>T - r.(?) p.(Pro126=) - benign g.35782911C>T - HMOX1(NM_002133.3):c.378C>T (p.(Pro126=), p.P126=) - HMOX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.378C>T - r.(?) p.(Pro126=) - likely benign g.35782911C>T - HMOX1(NM_002133.3):c.378C>T (p.(Pro126=), p.P126=) - HMOX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.577C>T - r.(?) p.(Pro193Ser) - likely benign g.35783110C>T g.35387117C>T HMOX1(NM_002133.2):c.577C>T (p.P193S) - HMOX1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.603A>G - r.(?) p.(Glu201=) - benign g.35783136A>G - HMOX1(NM_002133.3):c.603A>G (p.E201=) - HMOX1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.621C>T - r.(?) p.(Phe207=) - likely benign g.35783154C>T - HMOX1(NM_002133.3):c.621C>T (p.F207=) - HMOX1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.709C>G - r.(?) p.(Arg237Gly) - likely benign g.35785929C>G g.35389936C>G HMOX1(NM_002133.2):c.709C>G (p.R237G), HMOX1(NM_002133.3):c.709C>G (p.R237G) - HMOX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.709C>G - r.(?) p.(Arg237Gly) - likely benign g.35785929C>G - HMOX1(NM_002133.2):c.709C>G (p.R237G), HMOX1(NM_002133.3):c.709C>G (p.R237G) - HMOX1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.716G>A - r.(?) p.(Arg239Gln) - likely benign g.35785936G>A - HMOX1(NM_002133.3):c.716G>A (p.R239Q) - HMOX1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.741T>C - r.(?) p.(Ser247=) - likely benign g.35789465T>C - HMOX1(NM_002133.2):c.741T>C (p.S247=) - HMOX1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.797C>T - r.(?) p.(Pro266Leu) - VUS g.35789521C>T - HMOX1(NM_002133.2):c.797C>T (p.P266L) - HMOX1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.836C>T - r.(?) p.(Ala279Val) - likely benign g.35789560C>T g.35393567C>T HMOX1(NM_002133.3):c.836C>T (p.A279V) - HMOX1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.840A>G - r.(?) p.(Thr280=) - likely benign g.35789564A>G - HMOX1(NM_002133.2):c.840A>G (p.T280=) - HMOX1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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