Variant #0000532555 (NC_000007.13:g.73466256G>A, NM_000501.2:c.892G>A (ELN))

Chromosome 7
Allele Unknown
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.73466256G>A
DNA change (hg38) g.74051926G>A
Published as ELN(NM_000501.2):c.892G>A (p.(Val298Ile)), ELN(NM_000501.4):c.892G>A (p.V298I), ELN(NM_001278939.1):c.892G>A (p.V298I)
ISCN -
DB-ID ELN_000029 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00092 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ELN NM_000501.2 -/. - c.892G>A r.(?) p.(Val298Ile)


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