Variant #0000275266 (NC_000017.10:g.76490695G>A, NM_173628.3:c.6250C>T (DNAH17))

Chromosome 17
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.76490695G>A
DNA change (hg38) g.78494613G>A
Published as DNAH17(NM_173628.3):c.6250C>T (p.R2084W)
ISCN -
DB-ID DNAH17_000024
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) 0.00013 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 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PGS1 NM_024419.3 ?/. - c.*70564G>A r.(=) p.(=)
DNAH17 NM_173628.3 ?/. - c.6250C>T r.(?) p.(Arg2084Trp)
DNAH17-AS1 NR_102401.1 ?/. - n.769+416G>A r.(?) -


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