Variant #0000431084 (NC_000003.11:g.37083822G>A, NM_000249.3:c.1731G>A (MLH1))
Individual ID |
00192823 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.37083822G>A |
DNA change (hg38) |
g.37042331G>A |
Published as |
- |
ISCN |
- |
DB-ID |
MLH1_000597 See all 62 reported entries |
Variant remarks |
Deletion of Exon 15; Functional analysis using the pCAS ex vivo splicing assay and RNA analysis demonstrated this variant resulted in the skipping of exon 15. |
Reference |
PubMed: Tournier 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Michael Woods |
Database submission license |
No license selected |
Created by |
Michael Woods |
Date created |
2008-11-24 12:00:00 +01:00 (CET) |
Date last edited |
2019-02-20 13:06:39 +01:00 (CET) |

Variant on transcripts
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