Variant #0000527195 (NC_000006.11:g.131915481A>G, ARG1(NM_000045.3):c.*10433A>G)

Chromosome 6
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.131915481A>G
DNA change (hg38) g.131594341A>G
Published as MED23(NM_001270521.1):c.2996-6T>C (p.(=))
ISCN -
DB-ID ARG1_000017
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 -?/. - c.*10433A>G r.(=) p.(=)
MED23 NM_015979.3 -?/. - c.3014-6T>C r.(=) p.(=)