Variant #0000412770 (NC_000014.8:g.50760832_50769736del, L2HGDH(NM_024884.2):c.141-1_540+1del)
Individual ID |
00185758 |
Chromosome |
14 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.50760832_50769736del |
DNA change (hg38) |
g.50294114_50303018del |
Published as |
del exon 2-4 |
ISCN |
- |
DB-ID |
L2HGDH_000026 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Steenweg 2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Gajja Salomons |
Database submission license |
No license selected |
Created by |
Gajja Salomons |
Date created |
2016-05-06 16:17:03 +02:00 (CEST) |
Date last edited |
2020-07-05 14:46:32 +02:00 (CEST) |

Variant on transcripts
Screenings
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