Genomic variant #0000339501

Chromosome 6
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.158571501G>A
DNA change (hg38) -
Published as SERAC1(NM_032861.3):c.249C>T (p.D83=)
ISCN -
DB-ID SERAC1_000029 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) 0.70514 View details
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SERAC1 NM_032861.3 -/. - c.249C>T benign r.(?) p.(=)