Variant #0000010254 (NC_000007.14:g.5987078G>A, PMS2(NM_000535.7):c.1687C>T)

Individual ID 00002398
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.5987078G>A
Reference -
DB-ID PMS2_000035 See all 2 reported entries
dbSNP ID rs587778618
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

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Co_ocurrence     

RNA change     

Review status     
PMS2 NM_000535.7 +/+ 11 c.1687C>T p.(Arg563Ter) Hetero N/A r.? -



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002657 DNA SEQ-NG GENDA;CENTOGENE Centoxome Solo. Secondary Findings 16-01-23 Whole exome - 4 Pablo Kalfayan-Hospital Italiano