Variant #0000001544 (NC_000004.11:g.178354392A>G, AGA(NM_000027.3):c.916T>C)

Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178354392A>G
DNA change (hg38) g.177433238A>G
Published as -
ISCN -
DB-ID AGA_000026
Variant remarks 1 American AGU patient (hom)
Reference PubMed: Ikonen et al. 1991
ClinVar ID -
dbSNP ID rs121964906
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
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 +/+ 8 c.916T>C r.916u>c p.Cys306Arg