Variant #0000573037 (NC_000023.10:g.110973637_110973639del, ALG13(NM_001099922.2):c.2383_2385del)

Chromosome X
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.110973637_110973639del
DNA change (hg38) g.111730409_111730411del
Published as ALG13(NM_001099922.2):c.2380_2382del (p.(Glu795del)), ALG13(NM_001099922.3):c.2383_2385delGAA (p.E795del), ALG13(NM_001257231.1):c.2149_2151delGAA ...
ISCN -
DB-ID ALG13_000040 See all 3 reported entries
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALG13 NM_001099922.2 -?/. - c.2383_2385del r.(?) p.(Glu795del)