Variant #0000307715 (NC_000023.10:g.84362401C>T, SATL1(NM_001012980.2):c.1574G>A)

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.84362401C>T
DNA change (hg38) g.85107395C>T
Published as SATL1(NM_001012980.2):c.1574G>A (p.S525N)
ISCN -
DB-ID SATL1_000011
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) 0.00038 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SATL1 NM_001012980.2 -?/. - c.1574G>A r.(?) p.(Ser525Asn)
APOOL NM_198450.5 -?/. - c.*19717C>T r.(=) p.(=)