Variant #0000853203 (NC_000011.9:g.792053G>A, NM_001191060.1:c.834C>T (SLC25A22))

Chromosome 11
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.792053G>A
DNA change (hg38) -
Published as SLC25A22(NM_001191060.1):c.834C>T (p.H278=)
ISCN -
DB-ID CEND1_000008 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00021 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 15:40:45 +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     
SLC25A22 NM_001191060.1 -?/. - c.834C>T r.(?) p.(His278=)
CEND1 NM_016564.3 -?/. - c.-2106C>T r.(?) p.(=)


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