Variant #0000414454 (NC_000007.13:g.6048773del, PMS2(NM_000535.5):c.-120del)

Individual ID 00200413
Chromosome 7
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.6048773del
DNA change (hg38) g.6009142del
Published as -
ISCN -
DB-ID PMS2_000052
Variant remarks -
Reference PubMed: Miyaki 1997
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ?/. _1 c.-120del r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201383 DNA ? - - PMS2 1 Michael Woods