Variant #0000253049 (NC_000008.10:g.61655009A>G, NM_017780.3:c.1018A>G (CHD7))

Chromosome 8
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.61655009A>G
DNA change (hg38) g.60742450A>G
Published as CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V)
ISCN -
DB-ID CHD7_000018 See all 5 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) 0.00462 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2025-02-07 18:57:27 +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.1018A>G r.(?) p.(Met340Val)


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