Variant #0000532417 (NC_000007.13:g.6045655G>C, PMS2(NM_000535.6):c.31C>G)

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.6045655G>C
DNA change (hg38) g.6006024G>C
Published as -
ISCN -
DB-ID AIMP2_000001
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.31C>G r.(?) p.(Pro11Ala)
AIMP2 NM_006303.3 -?/. - c.-3340G>C r.(?) p.(=)
EIF2AK1 NM_014413.3 -?/. - c.*18649C>G r.(=) p.(=)