Variant #0000567539 (NC_000019.9:g.42854432G>A, NM_001410.2:c.2431G>A (MEGF8))

Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42854432G>A
DNA change (hg38) g.42350280G>A
Published as MEGF8(NM_001271938.1):c.2632G>A (p.(Gly878Arg))
ISCN -
DB-ID MEGF8_000042
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) 0.00012 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2025-02-07 18:57:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MEGF8 NM_001271938.1 -?/. - c.2632G>A r.(?) p.(Gly878Arg)
MEGF8 NM_001410.2 -?/. - c.2431G>A r.(?) p.(Gly811Arg)


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