Variant #0000881406 (NC_000012.11:g.49432165C>A, NM_003482.3:c.8974G>T (KMT2D))
Individual ID |
00419681 |
Chromosome |
12 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.49432165C>A |
DNA change (hg38) |
g.49038382C>A |
Published as |
- |
ISCN |
- |
DB-ID |
KMT2D_001074 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
MariaGnazzo |
Database submission license |
No license selected |
Created by |
MariaGnazzo |
Date created |
2022-10-21 11:55:39 +02:00 (CEST) |
Date last edited |
2022-10-23 15:29:05 +02:00 (CEST) |

Variant on transcripts
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