Variant #0000597245 (NC_000014.8:g.50769712C>T, L2HGDH(NM_024884.2):c.164G>A)

Individual ID 00265420
Chromosome 14
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.50769712C>T
DNA change (hg38) g.50302994C>T
Published as -
ISCN -
DB-ID L2HGDH_000027 See all 18 reported entries
Variant remarks ACMG grading: PM3,PM2,PP4,PP1
Reference -
ClinVar ID -
dbSNP ID rs118204021
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
L2HGDH NM_024884.2 +?/. - c.164G>A r.(?) p.(Gly55Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000266546 DNA SEQ-NG-S - - - 1 Andreas Laner