Variant #0000860879 (NC_000007.13:g.6045585C>A, PMS2(NM_000535.6):c.101G>T)

Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.6045585C>A
DNA change (hg38) -
Published as PMS2(NM_000535.5):c.101G>T (p.(Ser34Ile))
ISCN -
DB-ID PMS2_000977 See all 2 reported entries
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) 5.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 ?/. - c.101G>T r.(?) p.(Ser34Ile)
AIMP2 NM_006303.3 ?/. - c.-3410C>A r.(?) p.(=)
EIF2AK1 NM_014413.3 ?/. - c.*18719G>T r.(=) p.(=)