Genomic variant #0000414447

Individual ID 00200406
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6049613T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000199 See all 2 reported entries
Variant remarks -876 from the transcription start site; allele possibly playing a functional role in familial hyperaldosteronism type II (FH-II)
Reference PubMed: Jeske 2008
ClinVar ID -
dbSNP ID -
Origin Germline
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 ?/. _1 c.-963A>G VUS r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201376 DNA ? - - PMS2 1 Michael Woods