Variant #0000259720 (NC_000004.11:g.178361529C>T, AGA(NM_000027.3):c.179G>A)

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.178361529C>T
DNA change (hg38) g.177440375C>T
Published as AGA(NM_000027.3):c.179G>A (p.G60D)
ISCN -
DB-ID AGA_000005 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_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 +?/. - c.179G>A r.(?) p.(Gly60Asp)