Variant #0000002724 (NC_000007.14:g.5997349G>C, PMS2(NM_000535.5):c.780C>G)

Individual ID 00000325
Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.5997349G>C
Reference -
DB-ID PMS2_000004 See all 63 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
PMS2 NM_000535.5 -/- 7 c.780C>G p.(=) Homo MLH1 r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000373 DNA SEQ-NG Genia - 27-nov-2017 - EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 21 Pablo Kalfayan-Hospital Italiano