Variant #0000854961 (NC_000017.10:g.43531039C>T, NM_014798.2:c.2179G>A (PLEKHM1))

Chromosome 17
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.43531039C>T
DNA change (hg38) -
Published as PLEKHM1(NM_014798.2):c.2179G>A (p.(Gly727Ser)), PLEKHM1(NM_014798.3):c.2179G>A (p.G727S)
ISCN -
DB-ID PLEKHM1_000021 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) 0.00108 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2022-05-09 15:47:41 +02:00 (CEST)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHM1 NM_014798.2 ?/. - c.2179G>A r.(?) p.(Gly727Ser)


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