Variant #0000527197 (NC_000006.11:g.131923511T>C, ARG1(NM_000045.3):c.*18463T>C)

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.131923511T>C
DNA change (hg38) g.131602371T>C
Published as MED23(NM_001270521.1):c.1942A>G (p.(Thr648Ala))
ISCN -
DB-ID ARG1_000019
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.*18463T>C r.(=) p.(=)
MED23 NM_015979.3 -?/. - c.1960A>G r.(?) p.(Thr654Ala)