Variant #0000848670 (NC_000001.10:g.243434338G>A, NM_006642.3:c.279G>A (SDCCAG8))

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.243434338G>A
DNA change (hg38) -
Published as SDCCAG8(NM_001350248.1):c.279G>A (p.P93=), SDCCAG8(NM_006642.5):c.279G>A (p.P93=)
ISCN -
DB-ID SDCCAG8_000009 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) 0.00248 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2022-05-09 15:40:45 +02:00 (CEST)
Date last edited 2023-04-16 21:50:28 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AKT3 NM_005465.4 -/. - c.*234213C>T r.(=) p.(=)
SDCCAG8 NM_006642.3 -/. - c.279G>A r.(?) p.(Pro93=)
AKT3 NM_181690.2 -/. - c.*217421C>T r.(=) p.(=)


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