Variant #0000802314 (NC_000006.11:g.131903781C>A, ARG1(NM_000045.3):c.486C>A)

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.131903781C>A
DNA change (hg38) -
Published as ARG1(NM_001244438.1):c.510C>A (p.F170L)
ISCN -
DB-ID ARG1_000031
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 -?/. - c.486C>A r.(?) p.(Phe162Leu)
MED23 NM_015979.3 -?/. - c.4095+5068G>T r.(=) p.(=)