Variant #0000040507 (NC_000004.11:g.178360732G>A, AGA(NM_000027.3):c.392C>T)

Chromosome 4
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178360732G>A
DNA change (hg38) g.177439578G>A
Published as -
ISCN -
DB-ID AGA_000033
Variant remarks 1 Chinese patient with AGU (het)
Reference PubMed: Liu et al. 2014
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +?/. 3 c.392C>T r.(?) p.(Ser131Leu)