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) Variant not found in online data sets
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