Variant #0000692078 (NC_000016.9:g.4848585G>A, NM_024589.1:c.516C>T (ROGDI))

Chromosome 16
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.4848585G>A
DNA change (hg38) -
Published as ROGDI(NM_024589.2):c.516C>T (p.A172=)
ISCN -
DB-ID GLYR1_000015
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) 6.0E-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 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.*2353G>A r.(=) p.(=)
ROGDI NM_024589.1 -?/. - c.516C>T r.(?) p.(Ala172=)
GLYR1 NM_032569.3 -?/. - c.*6652C>T r.(=) p.(=)
SEPT12 NM_144605.4 -?/. - c.-10327C>T r.(?) p.(=)


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