Variant #0000330191 (NC_000004.11:g.178363512G>T, AGA(NM_000027.3):c.18C>A)

Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.178363512G>T
DNA change (hg38) g.177442358G>T
Published as AGA(NM_000027.3):c.18C>A (p.(Asn6Lys))
ISCN -
DB-ID AGA_000040
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 ?/. - c.18C>A r.(?) p.(Asn6Lys)