Variant #0000609122 (NC_000004.11:g.178360811G>T, AGA(NM_000027.3):c.313C>A)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.178360811G>T
DNA change (hg38) g.177439657G>T
Published as AGA(NM_000027.3):c.313C>A (p.(Leu105Ile))
ISCN -
DB-ID AGA_000050 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 -
Methylation -
Average frequency (large NGS studies) 0.0083 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 -?/. - c.313C>A r.(?) p.(Leu105Ile)