Variant #0000248138 (NC_000004.11:g.178360789del, AGA(NM_000027.3):c.336del)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178360789del
DNA change (hg38) g.177439635del
Published as AGA(NM_000027.3):c.336delT (p.I112Mfs*16)
ISCN -
DB-ID AGA_000011 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +?/. - c.336del r.(?) p.(Ile112MetfsTer16)