Variant #0000690044 (NC_000007.13:g.6045522C>T, PMS2(NM_000535.6):c.163+1G>A)

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6045522C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID AIMP2_000010
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 +/. - c.163+1G>A r.spl? p.?
AIMP2 NM_006303.3 +/. - c.-3473C>T r.(?) p.(=)
EIF2AK1 NM_014413.3 +/. - c.*18782G>A r.(=) p.(=)