Genomic variant #0000359586

Individual ID 00155689
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6036980G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000030 See all 134 reported entries
Variant remarks -
Reference contributed by Dept. of Dr Vaccaro
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.82377 View details
Owner Angela Solano & F Cardoso




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 -/. 7 c.780C>G benign r.(?) p.(Ser260=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156554 DNA SEQ - - - 24 Angela Solano & F Cardoso