Variant #0000262060 (NC_000004.11:g.178361514_178361515del, AGA(NM_000027.3):c.200_201del)

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178361514_178361515del
DNA change (hg38) g.177440360_177440361del
Published as AGA(NM_000027.3):c.200_201delAG (p.E67Afs*3)
ISCN -
DB-ID AGA_000007 See all 2 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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +/. - c.200_201del r.(?) p.(Glu67AlafsTer3)