Batch queries can be done using pipe "|" as a separator between search terms.
LOVD - Variant listings for MLH1

About this overview [Show]

Patient data (#0000159)
Disease -
Reference -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 11
DNA change c.988_990del   (View in UCSC Genome Browser)
Protein p.[Ser295Argfs*21, ile330del]
MAPP/PP2 Prior P 0.412
Prior P 0.412
IARC Classification Class 3: Uncertain
InSiGHT Classification Class 3: Uncertain
Tumour Char LR -
Segregation LR 4.164
Odds for causality 4.164
Posterior P 0.7447
Reference Thompson et al., 2014, InSiGHT
DB-ID MLH1_00159
Variant remarks -

1 entry in MLH1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Protein Descending
Ascending
MAPP/PP2 Prior P Descending
Ascending
Prior P Descending
Ascending
IARC Classification Descending
Ascending
InSiGHT Classification Descending
Ascending
Tumour Char LR Descending
Ascending
Segregation LR Descending
Ascending
Odds for causality Descending
Ascending
Posterior P Descending
Ascending
Reference Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
?/? Unknown 11 c.988_990del p.[Ser295Argfs*21, ile330del] 0.412 0.412 Class 3: Uncertain Class 3: Uncertain - 4.164 4.164 0.7447 Thompson et al., 2014, InSiGHT MLH1_00159 -