Variant #0000610017 (NC_000006.11:g.131900351C>T, ARG1(NM_000045.3):c.231C>T)

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.131900351C>T
DNA change (hg38) g.131579211C>T
Published as ARG1(NM_001244438.1):c.255C>T (p.S85=)
ISCN -
DB-ID ARG1_000029
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 -?/. - c.231C>T r.(?) p.(Ser77=)
MED23 NM_015979.3 -?/. - c.4096-4916G>A r.(=) p.(=)