Variant #0000719541 (NC_000003.11:g.52420222_52420223del, NM_015512.4:c.8672_8673del (DNAH1))

Chromosome 3
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.52420222_52420223del
DNA change (hg38) -
Published as DNAH1(NM_015512.5):c.8672_8673delAG (p.E2891Gfs*6)
ISCN -
DB-ID DNAH1_000072
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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2021-02-08 18:36:18 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DNAH1 NM_015512.4 ?/. - c.8672_8673del r.(?) p.(Glu2891Glyfs*6)


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