Full data view for gene CHM


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_000390.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Mc Taggart 2002 - - Germline - - - - - DNA SEQ - - CHM - PubMed: Mc Taggart 2002 - M - - - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Mc Taggart 2002 - - Germline - - - - - DNA SEQ - - CHM - PubMed: Mc Taggart 2002 - M - - - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Garcia-Hoyos 2008 - - Germline - - - - - DNA SEQ - - CHM - PubMed: GarciajalopezHoyos 2008 - M - Spain - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Poloschek 2008 - - Germline - - - - - DNA SEQ - - CHM - PubMed: Poloschek 2008 Syndromic choroideremia: associated with Martin-Probst deafness mental retardation syndrome. M - - - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Poloschek 2008 - - Germline - - - - - DNA SEQ - - CHM - PubMed: Poloschek 2008 Syndromic choroideremia: associated with Martin-Probst deafness mental retardation syndrome. M - - - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Strunnikova 2009 - - Germline - - - - - DNA, RNA, protein SEQ - - CHM - PubMed: Strunnikova 2009 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (confirmed) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Esposito 2011 - - Germline - - - - - DNA, RNA, protein PCR, PTT, RT-PCR, SEQ - - CHM - PubMed: Esposito 2011 - M - Italy - - - - - 1 Anne-Françoise Roux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (confirmed) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Esposito 2011 - - Germline - - - - - DNA, RNA, protein PCR, PTT, RT-PCR, SEQ - - CHM - PubMed: Esposito 2011 - M - Italy - - - - - 1 Anne-Françoise Roux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS110-pJ7.6A del. PubMed: Cremers 1990 - - Germline - - - - - DNA SEQ - - CHM - PubMed: Cremers 1990 - M - Germany - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from Ex1-DXS165 del PubMed: Cremers 1990 - - Germline - - - - - DNA SEQ - - CHM - PubMed: Cremers 1990 - M - Germany - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (confirmed) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Khateb 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - CHM - PubMed: Khateb 2016 Proband - - Israel - - - - - 1 Anne-Françoise Roux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Aleman TS 2017 - - Germline - - - - - DNA PCR - - CHM - PubMed: Aleman TS 2017 - - - - - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS110 to DXS121. PubMed: van Bokhoven 1994 - - Germline - - - - - DNA SEQ - - CHM - PubMed: van Bokhoven 1994 - M - Finland - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS110 to DXS233 PubMed: van Bokhoven 1994 - - Germline - - - - - DNA SEQ - - CHM - PubMed: van Bokhoven 1994 - M - - - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: van Bokhoven 1994 - - Germline - - - - - DNA SEQ - - CHM - PubMed: van Bokhoven 1994 - M - - - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS110-pJ15 del PubMed: van Bokhoven 1994 - - Germline - - - - - DNA SEQ - - CHM - PubMed: van Bokhoven 1994 - M - Sweden - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS1002-pJ7.6A del PubMed: Schwartz 1993 - - Germline - - - - - DNA SEQ - - CHM - PubMed: Schwartz 1993 - M - Denmark - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion PubMed: Ponjavic 1995 - - Germline - - - - - DNA SEQ - - CHM - PubMed: Ponjavic 1995 - M - Sweden - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Unknown - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion from DXS95-DXS72 del. Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 Preising - - Germline - - - - - DNA SEQ - - CHM - Preising Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 M - - - - - - - 1 David Baux
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 - Maternal (inferred) - pathogenic g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del 1-?_5442+?del - CHM_000099 hemizygous; total gene deletion Preising - - Germline - - - - - DNA SEQ - - CHM - Preising Markus Preising, Pooled Sample Homoallelity Testing (PSHT): Ein neues Verfahren zur Genlokalisation bei autosomal rezessiven und X-gekoppelten ErkrankungenrnThesis, Westf. Wilhelms-Universität, Münster, Schüling Verlag und Universitäts Dissertationen, WWU Münster, 1999 ISBN: 3-930962-89-6 M - - - - - - - 1 David Baux
+/. _1_15_ c.-30_*3450{0} r.0 p.0 - Parent #1 - pathogenic (dominant) g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del max 4.1Mb deletion CHM, DACH2, KLHL4, and CPXCR1del - CHM_000099 - PubMed: Zeitz 2021 - - Germline - - - - - DNA MLPA, SEQ - - CHM Fam4474PatCIC08017 Zeitz 2021, submitted - - - France - - - - - 1 Christina Zeitz
+/. _1_15_ c.-30_*3450{0} r.0 p.0 - Parent #1 - pathogenic (dominant) g.(?_85116185)_(85302566_?)del g.(?_85861180)_(86047562_?)del max 3.3Mb deletion CHM, DACH2 and KLHL4 - CHM_000099 - PubMed: Zeitz 2021 - - Germline - - - - - DNA MLPA, SEQ - - CHM Fam214PatCIC00313 Zeitz 2021, submitted - - - France - - - - - 1 Christina Zeitz
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