Variant #0000259740 (NC_000004.11:g.178359918C>G, AGA(NM_000027.3):c.488G>C)

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178359918C>G
DNA change (hg38) g.177438764C>G
Published as AGA(NM_000027.3):c.488G>C (p.C163S)
ISCN -
DB-ID AGA_000002 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +/. - c.488G>C r.(?) p.(Cys163Ser)