Variant #0000683287 (NC_000004.11:g.178359903C>T, AGA(NM_000027.3):c.503G>A)

Individual ID 00307713
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.178359903C>T
DNA change (hg38) g.177438749C>T
Published as -
ISCN -
DB-ID AGA_000018 See all 2 reported entries
Variant remarks -
Reference PubMed: Grozeva 2015, Journal: Grozeva 2015
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 2.0E-5 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +?/. - c.503G>A r.(?) p.(Trp168*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308853 DNA SEQ;SEQ-NG - 565 gene panel AGA 1 Johan den Dunnen