Variant #0000262062 (NC_000004.11:g.178355668C>G, AGA(NM_000027.3):c.699-25G>C)

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.178355668C>G
DNA change (hg38) g.177434514C>G
Published as AGA(NM_000027.3):c.699-25G>C
ISCN -
DB-ID AGA_000034
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) 0.98678 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.699-25G>C r.(=) p.(=)