Variant #0000677241 (NC_000004.11:g.178359970A>C, AGA(NM_000027.3):c.436T>G)

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.178359970A>C
DNA change (hg38) -
Published as AGA(NM_000027.3):c.436T>G (p.L146V)
ISCN -
DB-ID AGA_000051 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) 0.00277 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGA NM_000027.3 ?/. - c.436T>G r.(?) p.(Leu146Val)