Variant #0000359473 (NC_000007.13:g.6048804G>C, PMS2(NM_000535.5):c.-154C>G)

Individual ID 00155609
Chromosome 7
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048804G>C
DNA change (hg38) g.6009173G>C
Published as -
ISCN -
DB-ID PMS2_000004 See all 9 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) Variant not found in online data sets
Owner Angela Solano & F Cardoso
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 -/. 1 c.-154C>G r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156474 DNA SEQ - - - 23 Angela Solano & F Cardoso