Variant #0000595693 (NC_000007.13:g.(?), PMS2(NM_000535.5):c.(?_-30100)_(144+1_145-1)del)

Individual ID 00263995
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?)
DNA change (hg38) -
Published as -
ISCN -
DB-ID EZH2_000001 See all 6 reported entries
Variant remarks Deletion PMS2 E1-E10; NG_008466.1(NM_000535.5):c.(?_-30100)_(144+1_145-1)del
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Andreas Laner




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 +?/. 1-10 c.(?_-30100)_(144+1_145-1)del r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265109 DNA MLPA;SEQ-NG-I germline - MLH1, PMS2 1 Andreas Laner