Variant #0000412581 (NC_000014.8:g.50778816A>C, L2HGDH(NM_024884.2):c.53T>G)

Individual ID 00185635
Chromosome 14
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.50778816A>C
DNA change (hg38) g.50312098A>C
Published as -
ISCN -
DB-ID L2HGDH_000079 See all 2 reported entries
Variant remarks -
Reference rs2275591
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.49-0.70
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.56603 View details
Owner Gajja Salomons
Database submission license No license selected
Created by Gajja Salomons
Date created 2016-01-05 14:59:57 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
L2HGDH NM_024884.2 -/. 1 c.53T>G r.(?) p.(Leu18Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000186601 DNA SEQ - - L2HGDH 2 Gajja Salomons