Variant #0000611168 (NC_000007.13:g.6048582G>A, PMS2(NM_000535.5):c.23+46C>T)

Chromosome 7
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048582G>A
DNA change (hg38) g.6008951G>A
Published as PMS2(NM_000535.5):c.23+46C>T
ISCN -
DB-ID AIMP2_000004
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_NKI
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 -?/. - c.23+46C>T r.(=) p.(=)
AIMP2 NM_006303.3 -?/. - c.-413G>A r.(?) p.(=)
EIF2AK1 NM_014413.3 -?/. - c.*15722C>T r.(=) p.(=)