Variant #0000658274 (NC_000017.10:g.76490147C>T, NM_173628.3:c.6379G>A (DNAH17))

Chromosome 17
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.76490147C>T
DNA change (hg38) g.78494065C>T
Published as DNAH17(NM_173628.3):c.6379G>A (p.V2127I)
ISCN -
DB-ID DNAH17_000065
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) 0.00129 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 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2020-07-14 13:34:13 +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.*70016C>T r.(=) p.(=)
DNAH17 NM_173628.3 -?/. - c.6379G>A r.(?) p.(Val2127Ile)
DNAH17-AS1 NR_102401.1 -?/. - n.637C>T r.(?) -


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