Variant #0000253274 (NC_000004.11:g.178361414A>C, AGA(NM_000027.3):c.281+13T>G)

Chromosome 4
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.178361414A>C
DNA change (hg38) g.177440260A>C
Published as AGA(NM_000027.3):c.281+13T>G
ISCN -
DB-ID AGA_000038 See all 2 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) 0.19676 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 -/. - c.281+13T>G r.(=) p.(=)