Genomic variant #0000532419

Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048649A>T
DNA change (hg38) -
Published as PMS2(NM_000535.5):c.2T>A (p.M1?)
ISCN -
DB-ID PMS2_000017 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 +?/. - c.2T>A likely pathogenic r.(?) p.?
AIMP2 NM_006303.3 +?/. - c.-346A>T likely pathogenic r.(?) p.(=)
EIF2AK1 NM_014413.3 +?/. - c.*15655T>A likely pathogenic r.(=) p.(=)