Genomic variant #0000298107

Chromosome 6
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.158534493C>T
DNA change (hg38) g.158113461C>T
Published as SERAC1(NM_032861.3):c.1816G>A (p.V606M)
ISCN -
DB-ID SERAC1_000018
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     
SERAC1 NM_032861.3 ?/. - c.1816G>A r.(?) p.(Val606Met)