Variant #0000017960 (NC_000004.11:g.178352903C>A, AGA(NM_000027.3):c.1000G>T)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178352903C>A
DNA change (hg38) g.177431749C>A
Published as -
ISCN -
DB-ID AGA_000032
Variant remarks 1 Italian AGU patient (het); Double mutation c.34G>T + c.1000G>T in one allele, which one is causative is unclear
Reference PubMed: Saarela et al. 2001
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
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 +?/+? 9 c.1000G>T r.(1000g>u) p.(Glu334*)