Variant #0000678409 (NC_000008.10:g.61654008T>C, NM_017780.3:c.17T>C (CHD7))

Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.61654008T>C
DNA change (hg38) -
Published as CHD7(NM_017780.2):c.17T>C (p.M6T)
ISCN -
DB-ID CHD7_000416
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2020-09-15 15:50:26 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHD7 NM_017780.3 ?/. - c.17T>C r.(?) p.(Met6Thr)


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