Variant #0000623700 (NC_000017.10:g.43535766G>T, PLEKHM1(NM_014798.2):c.1348C>A)

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.43535766G>T
DNA change (hg38) g.45458400G>T
Published as PLEKHM1(NM_014798.2):c.1348C>A (p.(Pro450Thr)), PLEKHM1(NM_014798.3):c.1348C>A (p.P450T)
ISCN -
DB-ID PLEKHM1_000009 See all 2 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) 0.00039 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHM1 NM_014798.2 ?/. - c.1348C>A r.(?) p.(Pro450Thr)