Variant #0000297148 (NC_000007.13:g.6013013C>G, PMS2(NM_000535.6):c.*17G>C)

Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.6013013C>G
DNA change (hg38) g.5973382C>G
Published as PMS2(NM_000535.5):c.*17G>C
ISCN -
DB-ID PMS2_000042 See all 8 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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 -/. - c.*17G>C r.(=) p.(=)
RSPH10B NM_173565.3 -/. - c.-2970G>C r.(?) p.(=)