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
Options




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