Variant #0000608499 (NC_000003.11:g.37034818C>T, MLH1(NM_000249.3):c.-221C>T)

Chromosome 3
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.37034818C>T
DNA change (hg38) g.36993327C>T
Published as -
ISCN -
DB-ID EPM2AIP1_000003
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 -?/. - c.-221C>T r.(?) p.(=)
EPM2AIP1 NM_014805.3 -?/. - c.-250G>A r.(?) p.(=)