Genomic variant #0000294040

Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048618C>G
DNA change (hg38) -
Published as PMS2(NM_000535.5):c.23+10G>C (p.(=))
ISCN -
DB-ID PMS2_000340 See all 7 reported entries
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) 0.00238 View details
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 -/. - c.23+10G>C benign r.(=) p.(=)
AIMP2 NM_006303.3 -/. - c.-377C>G benign r.(?) p.(=)
EIF2AK1 NM_014413.3 -/. - c.*15686G>C benign r.(=) p.(=)