Variant #0001027065 (NC_000017.10:g.76458996C>G, NM_173628.3:c.9104G>C (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.76458996C>G
DNA change (hg38) -
Published as DNAH17(NM_173628.4):c.9104G>C (p.R3035T)
ISCN -
DB-ID DNAH17_000117
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) 7.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2025-02-07 18:57:27 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PGS1 NM_024419.3 ?/. - c.*38865C>G r.(=) p.(=)
DNAH17 NM_173628.3 ?/. - c.9104G>C r.(?) p.(Arg3035Thr)


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