Variant #0000857403 (NC_000001.10:g.243468034A>C, NM_006642.3:c.695A>C (SDCCAG8))

Chromosome 1
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.243468034A>C
DNA change (hg38) -
Published as SDCCAG8(NM_001350248.1):c.791A>C (p.Y264S)
ISCN -
DB-ID SDCCAG8_000069
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AKT3 NM_005465.4 ?/. - c.*200517T>G r.(=) p.(=)
SDCCAG8 NM_006642.3 ?/. - c.695A>C r.(?) p.(Tyr232Ser)
AKT3 NM_181690.2 ?/. - c.*183725T>G r.(=) p.(=)


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