Variant #0000414914 (NC_000007.13:g.6026521T>R, PMS2(NM_000535.6):c.1875A>Y)
Individual ID |
00200440 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
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. Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. |
Reference |
PubMed: Balogh 2003 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Somatic |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Michael Woods |
Database submission license |
No license selected |
Created by |
Michael Woods |

Variant on transcripts
Screenings
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