Variant #0000347769 (NC_000007.13:g.6048650T>C, PMS2(NM_000535.5):c.1A>G)

Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048650T>C
DNA change (hg38) g.6009019T>C
Published as -
ISCN -
DB-ID PMS2_000256 See all 12 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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 +?/. - c.1A>G r.(?) p.(Met1?)
AIMP2 NM_006303.3 +?/. - c.-345T>C r.(?) p.(=)
EIF2AK1 NM_014413.3 +?/. - c.*15654A>G r.(=) p.(=)