Variant #0000936228 (NC_000007.13:g.73452048G>A, NM_000501.2:c.175G>A (ELN))

Individual ID 00438588
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.73452048G>A
DNA change (hg38) -
Published as NM_001278939:c.G175A (G59R)
ISCN -
DB-ID ELN_000186
Variant remarks -
Reference PubMed: Hamdan 2017
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-10-21 19:20:17 +02:00 (CEST)
Date last edited 2023-10-21 20:01:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ELN NM_000501.2 ?/. - c.175G>A r.(?) p.(Gly59Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000440070 DNA SEQ;SEQ-NG - WGS - 2 Johan den Dunnen


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