Variant #0000351301 (NC_000007.13:g.6043443A>C, PMS2(NM_000535.5):c.251-20T>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.6043443A>C
DNA change (hg38) g.6003812A>C
Published as PMS2(NM_000535.5):c.251-20T>G
ISCN -
DB-ID PMS2_000344 See all 4 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) 0.00077 View details
Owner VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 -?/. - c.251-20T>G r.(=) p.(=)