Variant #0000260667 (NC_000001.10:g.100318245T>G, AGL(NM_000642.2):c.82+1565T>G)

Chromosome 1
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.100318245T>G
DNA change (hg38) g.99852689T>G
Published as AGL(NM_000028.2):c.82+1565T>G (p.(=)), AGL(NM_000646.2):c.20T>G (p.I7S)
ISCN -
DB-ID AGL_000024 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01614 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGL NM_000642.2 -?/. - c.82+1565T>G r.(=) p.(=)