Genomic variant #0000280189

Chromosome 1
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.45799120C>T
DNA change (hg38) g.45333448C>T
Published as MUTYH(NM_001128425.1):c.313G>A (p.D105N)
ISCN -
DB-ID MUTYH_000007 See all 5 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) Variant not found in online data sets
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. - c.313G>A r.(?) p.(Asp105Asn) -
TOE1 NM_025077.3 ?/. - c.-6805C>T r.(?) p.(=) -
HPDL NM_032756.2 ?/. - c.*5184C>T r.(=) p.(=) -