Variant #0000616011 (NC_000016.9:g.4852538C>G, NM_024589.1:c.35G>C (ROGDI))

Chromosome 16
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.4852538C>G
DNA change (hg38) g.4802537C>G
Published as ROGDI(NM_024589.2):c.35G>C (p.R12P)
ISCN -
DB-ID GLYR1_000013
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 2019-12-04 15:24:38 +01:00 (CET)
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     
ROGDI NM_024589.1 ?/. - c.35G>C r.(?) p.(Arg12Pro)
GLYR1 NM_032569.3 ?/. - c.*2699G>C r.(=) p.(=)


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