Variant #0000349876 (NC_000006.11:g.131915271T>C, ARG1(NM_000045.3):c.*10223T>C)

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.131915271T>C
DNA change (hg38) g.131594131T>C
Published as -
ISCN -
DB-ID MED23_000010
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 ?/. - c.*10223T>C r.(=) p.(=)
MED23 NM_015979.3 ?/. - c.3218A>G r.(?) p.(Tyr1073Cys)