Genomic variant #0000414275

Individual ID 00188630
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6022516C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000135 See all 21 reported entries
Variant remarks -
Reference -
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 Sean Young
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 +/. 12 c.2113G>A pathogenic r.(?) p.(Glu705Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189599 DNA SEQ - screen data 2017-01-17 PMS2 1 Sean Young