Full data view for gene CHD7

Information The variants shown are described using the NM_017780.3 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.1565G>T r.(?) p.(Gly522Val) Unknown - benign g.61655556G>T g.60742997G>T CHD7(NM_017780.2):c.1565G>T (p.G522V), CHD7(NM_017780.4):c.1565G>T (p.G522V) - CHD7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1565G>T r.(?) p.(Gly522Val) Parent #1 - likely benign g.61655556G>T g.60742997G>T - - CHD7_000027 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142962579 Germline - 12/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - VUS g.61655556G>T - - - CHD7_000027 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.1565G>T r.(?) p.(Gly522Val) Unknown - benign g.61655556G>T - CHD7(NM_017780.2):c.1565G>T (p.G522V), CHD7(NM_017780.4):c.1565G>T (p.G522V) - CHD7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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