Genomic variant #0000414176

Individual ID 00200879
Chromosome 14
Allele Parent #1
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.75513521G>T
DNA change (hg38) g.75046818G>T
Published as C>A at 2838
ISCN -
DB-ID MLH3_000033 See all 4 reported entries
Variant remarks -
Reference PubMed: Liu 2003
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency ?
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH3 NM_001040108.1 ?/. 2 c.2838C>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201849 DNA DHPLC;SEQ - - MLH3 1 InSiGHT - John-Paul Plazzer