Genomic variant #0000074624

Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.6050796G>T
DNA change (hg38) g.6011165G>T
Published as -
ISCN -
DB-ID PMS2_000136 See all 2 reported entries
Variant remarks Insight class: 1
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 -/- _1 c.-2146C>A benign r.(?) p.(=)