Variant #0000976979 (NC_000006.11:g.131921170C>G, NM_000045.3:c.*16122C>G (ARG1))

Chromosome 6
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.131921170C>G
DNA change (hg38) -
Published as MED23(NM_004830.4):c.2220+8G>C
ISCN -
DB-ID ARG1_000103
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:27:30 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 ?/. - c.*16122C>G r.(=) p.(=)
MED23 NM_004830.3 ?/. - c.2220+8G>C r.(=) p.(=)
MED23 NM_015979.3 ?/. - c.2238+8G>C r.(=) p.(=)


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