Genomic variant #0000294039

Chromosome 7
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048630C>G
DNA change (hg38) -
Published as PMS2(NM_000535.5):c.21G>C (p.S7=)
ISCN -
DB-ID PMS2_000424
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 -?/. - c.21G>C likely benign r.(?) p.(=)
AIMP2 NM_006303.3 -?/. - c.-365C>G likely benign r.(?) p.(=)
EIF2AK1 NM_014413.3 -?/. - c.*15674G>C likely benign r.(=) p.(=)