Variant #0000414248 (NC_000007.13:g.6048727del, PMS2(NM_000535.5):c.-77del)

Individual ID 00188574
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.6048727del
DNA change (hg38) g.6009096del
Published as -
ISCN -
DB-ID PMS2_000374
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Barbara Luisa Soares
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ?/. 1 c.-77del r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189543 DNA SEQ-NG-I - - MLH1, MSH2, MSH6, PMS2 1 Barbara Luisa Soares