Variant #0000414333 (NC_000007.13:g.6048650T>C, PMS2(NM_000535.6):c.1A>G)
Individual ID |
00200308 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.6048650T>C |
DNA change (hg38) |
g.6009019T>C |
Published as |
c.1A>G |
ISCN |
- |
DB-ID |
PMS2_000256 See all 15 reported entries |
Variant remarks |
- |
Reference |
Mark Jenkins; John Hopper |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
INSiGHT group |
Database submission license |
No license selected |
Created by |
INSiGHT group |

Variant on transcripts
Screenings
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