Genomic variant #0000414332

Individual ID 00200307
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048650T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000256 See all 12 reported entries
Variant remarks -
Reference PubMed: Borras 2013
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 Gabriel Capella




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 +?/. 1 c.1A>G likely pathogenic r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201277 DNA SEQ - - PMS2 1 Gabriel Capella