Variant #0000016972 (NC_000004.11:g.178360778G>A, AGA(NM_000027.3):c.346C>T)

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178360778G>A
DNA change (hg38) g.177439624G>A
Published as -
ISCN -
DB-ID AGA_000031
Variant remarks 3 Turkish siblings (hom) with AGU
Reference PubMed: Opladen et al. 2014
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Anne Polvi
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +/+? 3 c.346C>T r.(346c>u) p.(Arg116Trp)