Genomic variant #0000414914

Individual ID 00200440
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6026521T>R
DNA change (hg38) -
Published as Leu625Phe
ISCN -
DB-ID PMS2_000227
Variant remarks Idenitified in MCF-10F breast epithelial transform cells.
Reference PubMed: Balogh 2003
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Michael Woods




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 ?/. 11 c.1875A>Y VUS r.(?) p.(Leu625Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201410 DNA ? - - PMS2 4 Michael Woods