Variant #0000692076 (NC_000016.9:g.4847835C>T, NM_024589.1:c.702G>A (ROGDI))

Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.4847835C>T
DNA change (hg38) -
Published as ROGDI(NM_024589.2):c.702G>A (p.W234*)
ISCN -
DB-ID SEPT12_000009
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-09-15 15:50:26 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMIM22 NM_001253790.1 +?/. - c.*1603C>T r.(=) p.(=)
ROGDI NM_024589.1 +?/. - c.702G>A r.(?) p.(Trp234Ter)
SEPT12 NM_144605.4 +?/. - c.-9577G>A r.(?) p.(=)


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