Variant #0000535043 (NC_000008.10:g.61654207T>C, NM_017780.3:c.216T>C (CHD7))

Chromosome 8
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.61654207T>C
DNA change (hg38) g.60741648T>C
Published as CHD7(NM_017780.2):c.216T>C (p.Y72=), CHD7(NM_017780.4):c.216T>C (p.Y72=)
ISCN -
DB-ID CHD7_000268 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00713 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHD7 NM_017780.3 -/. - c.216T>C r.(?) p.(Tyr72=)


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