Variant #0000016971 (NC_000004.11:g.178359967A>G, AGA(NM_000027.3):c.439T>C)

Chromosome 4
Allele Both (homozygous)
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.178359967A>G
DNA change (hg38) g.177438813A>G
Published as -
ISCN -
DB-ID AGA_000030
Variant remarks 2 Qatari 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 (large NGS studies) 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 +/+? 4 c.439T>C r.(439u>c) p.(Ser147Pro)